ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=)

gnomAD frequency: 0.00012  dbSNP: rs201040413
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035492 SCV000059142 likely benign not specified 2012-01-20 criteria provided, single submitter clinical testing Leu829Leu in exon 25 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 3/6946 European Amer ican chromosomes by the NHLBI Exome Sequencing Project in a broad population (ht tp://evs.gs.washington.edu/EVS). Leu829Leu in exon 25 of MYBPC3 (NHLBI Exome Se quencing Project, allele frequency = 3/6946)
GeneDx RCV000035492 SCV000170437 benign not specified 2014-06-23 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 RCV000468991 SCV000558158 likely benign Hypertrophic cardiomyopathy 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621606 SCV000740100 likely benign Cardiovascular phenotype 2016-12-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001182248 SCV001347636 likely benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001182248 SCV002042168 likely benign Cardiomyopathy 2019-07-02 criteria provided, single submitter clinical testing

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