ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.952T>C (p.Tyr318His)

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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 RCV002374252 SCV002686087 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-10 criteria provided, single submitter clinical testing The p.Y318H variant (also known as c.952T>C), located in coding exon 9 of the PMS2 gene, results from a T to C substitution at nucleotide position 952. The tyrosine at codon 318 is replaced by histidine, an amino acid with 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492759 SCV004239608 uncertain significance Breast and/or ovarian cancer 2022-09-16 criteria provided, single submitter clinical testing

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