ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1073C>T (p.Ser358Phe)

dbSNP: rs762299041
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703890 SCV000832816 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-02-02 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 serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 358 of the PMS2 protein (p.Ser358Phe). ClinVar contains an entry for this variant (Variation ID: 580373). 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.

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