ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1714G>C (p.Gly572Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004944535 SCV005448219 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-28 criteria provided, single submitter clinical testing The p.G572R variant (also known as c.1714G>C), located in coding exon 12 of the MSH3 gene, results from a G to C substitution at nucleotide position 1714. The glycine at codon 572 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005107544 SCV005743785 uncertain significance not provided 2024-03-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 572 of the MSH3 protein (p.Gly572Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. 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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