ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.906-13T>A

dbSNP: rs730881219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159504 SCV000209458 uncertain significance not provided 2023-04-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002515093 SCV003031849 uncertain significance Hypertrophic cardiomyopathy 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein. ClinVar contains an entry for this variant (Variation ID: 181764). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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