ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.112G>T (p.Ala38Ser)

dbSNP: rs1554306427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560160 SCV000625505 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-10-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 455639). 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 disruptive. This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 38 of the PMS2 protein (p.Ala38Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine.
Sema4, Sema4 RCV002256339 SCV002529757 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-10 criteria provided, single submitter curation

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