ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3491G>A (p.Gly1164Asp)

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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 RCV004012921 SCV004832927 uncertain significance Hypertrophic cardiomyopathy 2023-04-10 criteria provided, single submitter clinical testing This missense variant replaces glycine with aspartic acid at codon 1164 of the MYBPC3 protein. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. 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 cardiovascular disorders in the literature. This variant has been identified in 1/31346 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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