ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3815-10T>G

gnomAD frequency: 0.00001  dbSNP: rs397516043
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000199458 SCV000253165 likely benign Hypertrophic cardiomyopathy 2024-09-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524574 SCV001734470 uncertain significance Cardiomyopathy 2020-08-04 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -10 position of intron 33 of the MYBPC3 gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/242620 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx RCV001551217 SCV001771679 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance present in a clinical variant database (Ito et al., 2017); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 42745; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32123317, 31006259, 28679633)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001524574 SCV003838924 uncertain significance Cardiomyopathy 2021-09-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000199458 SCV005429887 uncertain significance Hypertrophic cardiomyopathy 2024-07-20 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -10 position of intron 33 of the MYBPC3 gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, RNA studies have not been reported for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 25611685). This variant has been identified in 1/242620 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035620 SCV000059271 uncertain significance not specified 2009-08-17 no assertion criteria provided clinical testing

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