ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.881G>C (p.Arg294Pro)

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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 RCV002449799 SCV002682690 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-30 criteria provided, single submitter clinical testing The p.R294P variant (also known as c.881G>C), located in coding exon 8 of the PMS2 gene, results from a G to C substitution at nucleotide position 881. The arginine at codon 294 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004005780 SCV004839557 uncertain significance Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing

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