ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1369A>G (p.Thr457Ala)

dbSNP: rs1445965781
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583346 SCV000689979 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-03 criteria provided, single submitter clinical testing
Invitae RCV001860087 SCV002183794 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-08-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002329 SCV004831074 uncertain significance Lynch syndrome 2023-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583346 SCV005033359 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-14 criteria provided, single submitter clinical testing The p.T457A variant (also known as c.1369A>G), located in coding exon 8 of the MSH2 gene, results from an A to G substitution at nucleotide position 1369. The threonine at codon 457 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In a massively parallel cell-based functional assay testing susceptibility to a DNA damaging agent, 6-thioguanine (6-TG), this variant was reported to be functionally deleterious (Jia X et al. Am J Hum Genet, 2021 Jan;108:163-175). 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.

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