ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.283C>G (p.Pro95Ala)

gnomAD frequency: 0.00001  dbSNP: rs121913658
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Total submissions: 3
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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 RCV003996096 SCV004837565 uncertain significance Hypertrophic cardiomyopathy 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces proline with alanine at codon 95 of the MYL2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional analysis of purified human proteins expressing this variant has shown a decrease in calcium binding affinity (PMID: 11102452); the clinical relevance of this observation is not known. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 8673105). This variant has not been identified 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.
OMIM RCV000015110 SCV000035367 pathogenic Hypertrophic cardiomyopathy 10 1996-05-01 no assertion criteria provided literature only
Leiden Muscular Dystrophy (MYL2) RCV000015110 SCV000045758 not provided Hypertrophic cardiomyopathy 10 2012-03-26 no assertion provided curation

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