ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2705A>G (p.Asp902Gly)

dbSNP: rs959418808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184841 SCV001350925 uncertain significance Cardiomyopathy 2023-12-04 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glycine at codon 902 of the MYBPC3 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 MYBPC3-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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