ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.679A>C (p.Ile227Leu)

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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 RCV002369449 SCV002663785 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-19 criteria provided, single submitter clinical testing The p.I227L variant (also known as c.679A>C), located in coding exon 6 of the PMS2 gene, results from an A to C substitution at nucleotide position 679. The isoleucine at codon 227 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV004005737 SCV004827276 uncertain significance Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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