ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) (rs371488302)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157311 SCV000207046 uncertain significance Primary dilated cardiomyopathy 2014-11-25 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148679 SCV000190403 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-06-01 no assertion criteria provided research
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000755681 SCV000883090 uncertain significance Left ventricular noncompaction 10 2018-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763242 SCV000893878 likely pathogenic Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000158151 SCV000208086 likely pathogenic not provided 2015-05-15 criteria provided, single submitter clinical testing p.Val771Met (GTG>ATG): c.2311 G>A in exon 24 of the MYBPC3 gene (NM_000256.3). The Val771Met mutation in the MYBPC3 gene has been reported previously in one Spanish individual diagnosed with HCM in childhood, and was absent from 100 ethnically-matched control individuals in this study (Garcia-Castro M et al., 2004). This individual's mother and sibling also harbored Val771Met. The mother was found to have left ventricular hypertrophy while the sibling had a normal echocardiogram. Subsequently, Val771Met was reported in one Egyptian individual with HCM who also harbored the Leu267Val mutation in the MYH7 gene (Kassem H et al., 2013). The Val771 residue is completely conserved across species, and in silico analysis predicts Val771Met is damaging to protein structure/function. Val771Met was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. In summary, Val771Met in the MYBPC3 gene is interpreted as a disease-causing mutation. The variant is found in DCM panel(s).

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