ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.598G>T (p.Val200Phe)

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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 RCV003182922 SCV003869948 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-06 criteria provided, single submitter clinical testing The p.V200F variant (also known as c.598G>T), located in coding exon 3 of the MSH2 gene, results from a G to T substitution at nucleotide position 598. The valine at codon 200 is replaced by phenylalanine, 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 reported to be functionally neutral (Jia X et al. Am J Hum Genet, 2021 Jan;108:163-175). This amino acid position is not well 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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