ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2217G>A (p.Glu739=)

dbSNP: rs786204348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459876 SCV000546470 likely benign Hypertrophic cardiomyopathy 2022-03-28 criteria provided, single submitter clinical testing
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV001263426 SCV001441289 uncertain significance Left ventricular noncompaction; Hypertrophic cardiomyopathy 2020-10-15 criteria provided, single submitter clinical testing We observed a c.2217G>A (p.E739K) genetic variant in a 39-y.o. female patient with left ventricular non-compaction and myocardium hypertrophy. Additionally, in a proband we observed the genetic variant p.Q1233*, also in MYBPC3 gene. Both genetic variants were in a heterozygous state. The p.E739K genetic variant was classified as probably pathogenic by various online resources. However, in the absence of family screening results and functional studies, the genetic variant p.E739K could be classified as the variant of unknown clinical significance only.

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