ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) (rs61729664)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252526 SCV000320010 likely benign Cardiovascular phenotype 2017-07-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Athena Diagnostics Inc RCV000586186 SCV000842846 benign not provided 2017-12-21 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000035561 SCV000054762 benign not specified 2013-06-24 criteria provided, single submitter research
Color RCV000771353 SCV000903642 likely benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625353 SCV000745033 likely benign Familial hypertrophic cardiomyopathy 4 2017-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000035561 SCV000207993 likely benign not specified 2017-11-28 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.
Integrated Genetics/Laboratory Corporation of America RCV000586186 SCV000696327 likely benign not provided 2017-03-20 criteria provided, single submitter clinical testing Variant summary: The MYBPC3 c.3106C>T (p.Arg1036Cys) variant involves the alteration of a conserved nucleotide and 4/4 in silico tools (Polyphen not captured here due to not functioning at time of scoring) predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 62/120392 (1/1941), predominantly in the African cohort, 58/9778 (1/168), which does exceed the estimated maximal expected allele frequency for a pathogenic MYBPC3 variant of 1/999. Therefore, suggesting this is likely a benign polymorphism found primarily in population(s) of African origin. Multiple publications have cited the variant in affected individuals, however, with limited information (ie, co-occurrence and cosegregation data) and predominantly classifying the variant as "likely benign." In addition, multiple clinical diagnostic laboratories have classified the variant as "likely benign/benign." Therefore, the variant of interest has been classified as "likely benign."
Invitae RCV000230224 SCV000284238 benign Hypertrophic cardiomyopathy 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035561 SCV000059211 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Arg1036Cys in exon 29 of MYBPC3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 0.6% (58/9778) of African chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61729664).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035561 SCV000740364 likely benign not specified 2017-03-30 criteria provided, single submitter clinical testing

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