ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.511A>G (p.Lys171Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002351532 SCV002646504 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-04 criteria provided, single submitter clinical testing The p.K171E variant (also known as c.511A>G), located in coding exon 5 of the PMS2 gene, results from an A to G substitution at nucleotide position 511. The lysine at codon 171 is replaced by glutamic acid, an amino acid with similar properties. 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.
Baylor Genetics RCV004572302 SCV005056380 uncertain significance Lynch syndrome 4 2024-03-28 criteria provided, single submitter clinical testing

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