ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.35T>C (p.Phe12Ser)

gnomAD frequency: 0.00001  dbSNP: rs1462884291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223494 SCV002501124 uncertain significance not provided 2022-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487024 SCV002787043 uncertain significance Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-08-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808234 SCV005430114 uncertain significance Hypertrophic cardiomyopathy 2024-07-20 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with serine at codon 12 of the MYBPC3 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYBPC3-related disorders in the literature. This variant has been identified in 1/231458 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.

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