ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.868T>G (p.Phe290Val) (rs587782833)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216180 SCV000274778 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-16 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000231081 SCV000285157 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-10-03 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 290 of the PMS2 protein (p.Phe290Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 231047). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Counsyl RCV000663248 SCV000786469 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2018-05-14 criteria provided, single submitter clinical testing
Color RCV000216180 SCV000904759 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-21 criteria provided, single submitter clinical testing

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