ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) (rs397516212)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035907 SCV000059558 likely pathogenic Hypertrophic cardiomyopathy 2013-03-21 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000162334 SCV000212632 pathogenic Familial hypertrophic cardiomyopathy 1 criteria provided, single submitter research This MYH7 Lys146Asn variant has been reported as a de novo mutation in a sporadic childhood cardiomyopathy case (Morita H, et al., 2008). This mutation is not observed in the large Exome Aggregation Consortium dataset ( Here we report this mutation in 2 unrelated HCM index cases. Familial study in one family shows segregation of the variant with disease. Based on the de novo report and our data, we classify this mutation as "pathogenic".

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