ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2264C>T (p.Ser755Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002443791 SCV002736579 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-22 criteria provided, single submitter clinical testing The p.S755F variant (also known as c.2264C>T), located in coding exon 14 of the MSH2 gene, results from a C to T substitution at nucleotide position 2264. The serine at codon 755 is replaced by phenylalanine, an amino acid with highly dissimilar properties. 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 neutral (Jia X et al. Am J Hum Genet, 2021 01;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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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