ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1190C>T (p.Thr397Ile)

gnomAD frequency: 0.00001  dbSNP: rs773157190
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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 RCV001373862 SCV001570594 uncertain significance not provided 2020-11-01 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with MSH3-related conditions. This variant is present in population databases (rs773157190, ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 397 of the MSH3 protein (p.Thr397Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
Ambry Genetics RCV002341812 SCV002640767 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-06 criteria provided, single submitter clinical testing The p.T397I variant (also known as c.1190C>T), located in coding exon 8 of the MSH3 gene, results from a C to T substitution at nucleotide position 1190. The threonine at codon 397 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040232 SCV005666177 uncertain significance Endometrial carcinoma; Familial adenomatous polyposis 4 2024-05-22 criteria provided, single submitter clinical testing

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