ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1669G>A (p.Gly557Ser)

dbSNP: rs730880693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158435 SCV000208370 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 29121657)
Labcorp Genetics (formerly Invitae), Labcorp RCV002516383 SCV003440394 uncertain significance Hypertrophic cardiomyopathy 2022-04-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 181122). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 29121657). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 557 of the MYBPC3 protein (p.Gly557Ser).

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