ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.191A>G (p.His64Arg)

dbSNP: rs1250637243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004008248 SCV004823970 uncertain significance Hypertrophic cardiomyopathy 2023-02-24 criteria provided, single submitter clinical testing This missense variant replaces histidine with arginine at codon 64 of the MYBPC3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 32481709, 33495597). This variant has been identified in 1/224018 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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