ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=)

gnomAD frequency: 0.00001  dbSNP: rs727503193
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Total submissions: 7
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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 RCV000151108 SCV000198873 likely benign not specified 2014-08-07 criteria provided, single submitter clinical testing Pro645Pro in exon 21 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
GeneDx RCV000831465 SCV000973215 likely benign not provided 2018-06-19 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.
Color Diagnostics, LLC DBA Color Health RCV001188348 SCV001355387 likely benign Cardiomyopathy 2019-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001427828 SCV001630516 likely benign Hypertrophic cardiomyopathy 2024-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408669 SCV002719244 likely benign Cardiovascular phenotype 2022-01-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002505148 SCV002806627 likely benign Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-09-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001427828 SCV004842422 likely benign Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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