ClinVar Miner

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

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000035561 SCV000054762 benign not specified 2013-06-24 criteria provided, single submitter research
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).
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.
Invitae RCV001085534 SCV000284238 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252526 SCV000320010 likely benign Cardiovascular phenotype 2019-02-08 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Integrated Genetics/Laboratory Corporation of America RCV000035561 SCV000696327 benign not specified 2020-11-16 criteria provided, single submitter clinical testing Variant summary: MYBPC3 c.3106C>T (p.Arg1036Cys) results in a non-conservative amino acid change located in the Immunoglobulin-like domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00042 in 245430 control chromosomes, predominantly at a frequency of 0.0056 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 6 fold of the estimated maximal expected allele frequency for a pathogenic variant in MYBPC3 causing Cardiomyopathy phenotype (0.001), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. c.3106C>T has been reported in the literature in individuals affected with Cardiomyopathy. These reports do not provide unequivocal conclusions about association of the variant with Cardiomyopathy. Ten clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
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
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
Athena Diagnostics Inc RCV000586186 SCV000842846 benign not provided 2017-12-21 criteria provided, single submitter clinical testing
Color RCV000771353 SCV000903642 likely benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852648 SCV000995353 likely benign Cardiomyopathy; Long QT syndrome 2018-11-28 criteria provided, single submitter clinical testing
Mendelics RCV000625353 SCV001138289 benign Familial hypertrophic cardiomyopathy 4 2019-05-28 criteria provided, single submitter clinical testing

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