ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2371G>C (p.Ala791Pro)

dbSNP: rs1341247425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985802 SCV001134354 uncertain significance not provided 2019-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649393 SCV005141953 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-21 criteria provided, single submitter clinical testing The p.A791P variant (also known as c.2371G>C), located in coding exon 14 of the MSH2 gene, results from a G to C substitution at nucleotide position 2371. The alanine at codon 791 is replaced by proline, an amino acid with highly similar properties. In a massively parallel cell-based functional assay testing susceptibility to a DNA damaging agent, 6-thioguanine (6-TG), this variant was determined to be functionally neutral (Jia X et al. Am J Hum Genet, 2021 Jan;108:163-175). This amino acid position is highly conserved in available vertebrate species. 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.

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