ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.652G>C (p.Gly218Arg) (rs878854055)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232386 SCV000285146 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 218 of the PMS2 protein (p.Gly218Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual affected with ovarian cancer (PMID: 21701589). ClinVar contains an entry for this variant (Variation ID: 237923). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000582595 SCV000691095 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-21 criteria provided, single submitter clinical testing

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