ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3705G>A (p.Val1235=)

gnomAD frequency: 0.00001  dbSNP: rs397516036
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Total submissions: 4
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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 RCV000035609 SCV000059260 likely benign not specified 2012-03-22 criteria provided, single submitter clinical testing Val1235Val in exon 33 of MYBPC3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and it is not locate d within the splice consensus sequence. Val1235Val in exon 33 of MYBPC3 (allel e frequency = n/a)
Color Diagnostics, LLC DBA Color Health RCV001180865 SCV001345906 likely benign Cardiomyopathy 2019-04-14 criteria provided, single submitter clinical testing
Invitae RCV001501703 SCV001706520 likely benign Hypertrophic cardiomyopathy 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372601 SCV004087653 likely benign Cardiovascular phenotype 2023-08-07 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.

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