ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3057G>A (p.Val1019=)

dbSNP: rs750618688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428006 SCV000527625 likely benign not specified 2016-05-11 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 RCV001188439 SCV001355498 likely benign Cardiomyopathy 2019-07-15 criteria provided, single submitter clinical testing
Invitae RCV001500060 SCV001704838 likely benign Hypertrophic cardiomyopathy 2021-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168665 SCV003911270 uncertain significance Cardiovascular phenotype 2023-02-21 criteria provided, single submitter clinical testing The c.3057G>A variant (also known as p.V1019V), located in coding exon 29 of the MYBPC3 gene, results from a G to A substitution at nucleotide position 3057. This nucleotide substitution does not change the valine at codon 1019. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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