ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.251G>A (p.Gly84Asp)

gnomAD frequency: 0.00002  dbSNP: rs569824900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988557 SCV001138322 uncertain significance Hypertrophic cardiomyopathy 4 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179873 SCV001344670 uncertain significance Cardiomyopathy 2020-04-14 criteria provided, single submitter clinical testing This missense variant replaces glycine with aspartic acid at codon 84 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 been reported in an individual affected with dilated cardiomyopathy (PMID: 21750094). This variant has been identified in 3/179582 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.
Invitae RCV001246942 SCV001420337 uncertain significance Hypertrophic cardiomyopathy 2023-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 84 of the MYBPC3 protein (p.Gly84Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of dilated cardiomyopathy or hypertrophic cardiomyopathy (PMID: 21750094; Invitae). ClinVar contains an entry for this variant (Variation ID: 802676). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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