ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg)

dbSNP: rs1554297277
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987821 SCV001137286 uncertain significance Lynch syndrome 4 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001204070 SCV001375258 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 587 of the PMS2 protein (p.Ser587Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency).

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