ClinVar Miner

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

gnomAD frequency: 0.00128  dbSNP: rs61729664
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Total submissions: 15
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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, Mass General Brigham 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,; dbSNP rs61729664).
GeneDx RCV000586186 SCV000207993 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780, 23861362, 22958901, 22763267, 27153395, 25524337, 28679633, 29121657, 25163546)
Invitae RCV001085534 SCV000284238 benign Hypertrophic cardiomyopathy 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252526 SCV000320010 likely benign Cardiovascular phenotype 2019-02-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625353 SCV000745033 likely benign Hypertrophic cardiomyopathy 4 2017-07-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000586186 SCV000842846 benign not provided 2017-12-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health 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 Hypertrophic cardiomyopathy 4 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482960 SCV002795806 likely benign Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2022-04-12 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000035561 SCV001917795 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000586186 SCV001956396 likely benign not provided no assertion criteria provided clinical testing

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