ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) (rs367927327)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000151071 SCV000170442 benign not specified 2013-08-15 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151071 SCV000198812 likely benign not specified 2010-11-12 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000621874 SCV000739983 likely benign Cardiovascular phenotype 2016-07-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625351 SCV000745031 likely benign Familial hypertrophic cardiomyopathy 4 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV001089207 SCV000750056 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756371 SCV000884164 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing The p.Thr1095Thr variant (rs367927327) does not alter the amino acid sequence of the MYBPC3 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.01 percent (identified on 24 out of 234,546 chromosomes) and has been reported to the ClinVar database (Variation ID: 138319). Based on these observations, the p.Thr1095Thr variant is likely to be benign.
Color RCV000771897 SCV000904661 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing

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