ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2149-8C>G

gnomAD frequency: 0.00004  dbSNP: rs397515950
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Total submissions: 5
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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 RCV000035468 SCV000059116 uncertain significance not specified 2015-02-02 criteria provided, single submitter clinical testing The c.2149-8C>G variant in MYBPC3 has been previously identified by our laborato ry in 3 families with HCM; however, two affected siblings from one family carrie d a clinically significant variant in another gene that was sufficient to explai n their disease. The c.2149-8C>G variant has also been identified in 4/11426 Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; rs397515950). This variant is located in the 3' splice region. C omputational tools do not suggest an impact to splicing. However, this informati on is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.2149-8C>G variant is uncertain.
GeneDx RCV000035468 SCV000170436 benign not specified 2011-07-12 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.
Color Diagnostics, LLC DBA Color Health RCV001188892 SCV001356065 likely benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing
Invitae RCV001397441 SCV001599188 likely benign Hypertrophic cardiomyopathy 2023-09-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003944890 SCV004763656 likely benign MYBPC3-related condition 2020-09-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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