ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1615G>T (p.Ala539Ser)

dbSNP: rs1783031685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178457 SCV001342914 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-23 criteria provided, single submitter clinical testing
Invitae RCV001294457 SCV001483337 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-05-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 539 of the PMS2 protein (p.Ala539Ser). ClinVar contains an entry for this variant (Variation ID: 919977). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PMS2 protein function.

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