ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1742A>C (p.Lys581Thr)

dbSNP: rs1554297289
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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 RCV001012920 SCV001173440 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-14 criteria provided, single submitter clinical testing The p.K581T variant (also known as c.1742A>C), located in coding exon 11 of the PMS2 gene, results from an A to C substitution at nucleotide position 1742. The lysine at codon 581 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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