ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2093T>C (p.Val698Ala)

dbSNP: rs1085308060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002244375 SCV002512962 uncertain significance not provided 2021-10-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004945981 SCV005472450 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-05 criteria provided, single submitter clinical testing The p.V698A variant (also known as c.2093T>C), located in coding exon 12 of the PMS2 gene, results from a T to C substitution at nucleotide position 2093. The valine at codon 698 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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