ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.839T>G (p.Phe280Cys)

dbSNP: rs757418409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042416 SCV001206095 uncertain significance not provided 2023-09-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs757418409, gnomAD 0.0009%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 840430). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 280 of the MSH3 protein (p.Phe280Cys).

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