ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1078A>G (p.Met360Val)

gnomAD frequency: 0.00001  dbSNP: rs1260085751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212381 SCV001383964 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 942400). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 360 of the MSH3 protein (p.Met360Val).
Ambry Genetics RCV002418727 SCV002727700 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-27 criteria provided, single submitter clinical testing The p.M360V variant (also known as c.1078A>G), located in coding exon 7 of the MSH3 gene, results from an A to G substitution at nucleotide position 1078. The methionine at codon 360 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV003483788 SCV004228592 not provided Familial adenomatous polyposis 4 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-05-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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