ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.435C>G (p.Asp145Glu)

dbSNP: rs766907447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770389 SCV000901830 uncertain significance Cardiomyopathy 2016-05-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999940 SCV004815292 uncertain significance Hypertrophic cardiomyopathy 2023-02-24 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glutamic acid at codon 145 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). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYL2-related disorders in the literature. 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.

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