ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.587G>A (p.Trp196Ter)

dbSNP: rs2095898504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178219 SCV001342600 pathogenic Cardiomyopathy 2018-12-14 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 5 of the MYBPC3 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in two individuals affected with hypertrophic cardiomyopathy (PMID: 23233322). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease. Based on available evidence, this variant is classified as Pathogenic.

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