ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) (rs367729718)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000223907 SCV000208122 likely benign not specified 2016-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084330 SCV001003458 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000988537 SCV001138292 likely benign Familial hypertrophic cardiomyopathy 4 2019-05-28 criteria provided, single submitter clinical testing
Color RCV001186906 SCV001353517 likely benign Cardiomyopathy 2018-11-11 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000721105 SCV000280243 likely benign not provided 2016-08-22 no assertion criteria provided provider interpretation re-assessment prompted by MAF in ExAC most common in east asians AF 0.00209839 18/8578 alleles overall: AF 0.00017774, 21/118152 alleles did not re-review case data, only ExAC data. -p.Gln921Glu (c.2761 C>G) in exon 27 of the MYBPC3 gene (NM_000256.3) This variant has been reported in multiple studies ranging from associations with phenotype to control subjects. Maron et al. (2008) reported this variant in a patient with hypertrophic cardiomyopathy. The patient also harbored a well-characterized mutation in the MYBPC3 gene (p.Arg502Trp) which we at Stanford classify as very likely disease causing. This variant was also found in one patient who had a structurally normal echocardiogram and a clinical diagnosis of long QT syndrome with a QT interval ranging from 130-550 ms and syncope (Fokstuen, S., 2014). A study performed by Dr. Ackerman's group at Mayo clinic sequenced healthy control samples from diverse populations found this variant in one individual who was sequenced for nine hypertrophic cardiomyopathy genes including MYH7, MYL2, MYL3, MYBPC3, ACTC1, TNNC1, TNN13, TNNT2, and TPM1. It was not reported in combination with any other variations in these genes (Kapplinger et al., 2013). Another patient was reported with a different change at this residue (Q921L). However segregation analysis was not performed on this variant therefore making pathogenicity unclear (Brito et al., 2012).

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