ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.269C>G (p.Ser90Cys)

dbSNP: rs770678468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000775369 SCV000909680 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775369 SCV002742721 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-26 criteria provided, single submitter clinical testing The p.S90C variant (also known as c.269C>G), located in coding exon 4 of the PMS2 gene, results from a C to G substitution at nucleotide position 269. The serine at codon 90 is replaced by cysteine, an amino acid with dissimilar 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Baylor Genetics RCV003461038 SCV004207849 uncertain significance Lynch syndrome 4 2023-05-08 criteria provided, single submitter clinical testing

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