Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication

Marissa J. Stutzman; Dan Ye; David J. Tester; John R. Giudicessi; Michael J. Ackerman

doi:10.1016/j.hrcr.2018.11.019

Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication

Marissa J. Stutzman, Dan Ye, David J. Tester, John R. Giudicessi, Michael J. Ackerman

Cardiovascular Medicine

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Original language	English (US)
Pages (from-to)	163-168
Number of pages	6
Journal	HeartRhythm Case Reports
Volume	5
Issue number	3
DOIs	https://doi.org/10.1016/j.hrcr.2018.11.019
State	Published - Mar 2019

Keywords

Brugada syndrome
Cardiac arrest
Genetic testing
Rare variant interpretation
SCN5A

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1016/j.hrcr.2018.11.019

Cite this

Stutzman, M. J., Ye, D., Tester, D. J., Giudicessi, J. R., & Ackerman, M. J. (2019). Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication. HeartRhythm Case Reports, 5(3), 163-168. https://doi.org/10.1016/j.hrcr.2018.11.019

Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication. / Stutzman, Marissa J.; Ye, Dan; Tester, David J. et al.
In: HeartRhythm Case Reports, Vol. 5, No. 3, 03.2019, p. 163-168.

Research output: Contribution to journal › Article › peer-review

Stutzman, MJ, Ye, D, Tester, DJ, Giudicessi, JR & Ackerman, MJ 2019, 'Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication', HeartRhythm Case Reports, vol. 5, no. 3, pp. 163-168. https://doi.org/10.1016/j.hrcr.2018.11.019

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keywords = "Brugada syndrome, Cardiac arrest, Genetic testing, Rare variant interpretation, SCN5A",

author = "Stutzman, {Marissa J.} and Dan Ye and Tester, {David J.} and Giudicessi, {John R.} and Ackerman, {Michael J.}",

note = "Funding Information: This work was supported by the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program. Dr Ackerman is a consultant for Audentes Therapeutics, Boston Scientific, Gilead Sciences, Invitae, Medtronic, MyoKardia, and St. Jude Medical. Dr Ackerman, Mr Tester, and Mayo Clinic have received sales-based royalties in the past from Transgenomic for their FAMILION-LQTS and FAMILION-CPVT genetic tests. Dr Ackerman and Mayo Clinic have a royalty/equity relationship with AliveCor, Blue Ox Health, and StemoniX, but without remuneration thus far. However, none of these entities have contributed to this study in any manner. Funding Information: This work was supported by the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program. Dr Ackerman is a consultant for Audentes Therapeutics, Boston Scientific, Gilead Sciences, Invitae, Medtronic, MyoKardia, and St. Jude Medical. Dr Ackerman, Mr Tester, and Mayo Clinic have received sales-based royalties in the past from Transgenomic for their FAMILION-LQTS and FAMILION-CPVT genetic tests. Dr Ackerman and Mayo Clinic have a royalty/equity relationship with AliveCor, Blue Ox Health, and StemoniX, but without remuneration thus far. However, none of these entities have contributed to this study in any manner. ",

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AU - Tester, David J.

AU - Giudicessi, John R.

AU - Ackerman, Michael J.

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Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication

Keywords

ASJC Scopus subject areas

Access to Document

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