ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1801T>C (p.Ser601Pro)

dbSNP: rs1782975271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200527 SCV001371513 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411734 SCV002717319 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-18 criteria provided, single submitter clinical testing The p.S601P variant (also known as c.1801T>C), located in coding exon 11 of the PMS2 gene, results from a T to C substitution at nucleotide position 1801. The serine at codon 601 is replaced by proline, 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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