ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)

gnomAD frequency: 0.00002  dbSNP: rs727503181
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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 RCV000151083 SCV000198832 likely benign not specified 2013-08-07 criteria provided, single submitter clinical testing Thr959Thr in exon 27 of the MYBPC3 gene: This variant does not alter an amino ac id residue and is not located within the conserved splice consensus sequence. Co mputational tools predict the creation of a novel splice site but their accuracy is unknown. In summary, this variant is more likely benign though a role in dis ease cannot be fully excluded.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770334 SCV000901768 uncertain significance Cardiomyopathy 2015-11-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770334 SCV001352070 likely benign Cardiomyopathy 2019-01-06 criteria provided, single submitter clinical testing
Invitae RCV001208725 SCV001380130 likely benign Hypertrophic cardiomyopathy 2022-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433649 SCV002751137 likely benign Cardiovascular phenotype 2019-05-31 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.
Clinical Genetics, Academic Medical Center RCV001698976 SCV001917633 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001698976 SCV001930269 uncertain significance not provided no assertion criteria provided clinical testing

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