ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) (rs749141001)

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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 RCV000221203 SCV000278143 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-10 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001201353 SCV000285094 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-06-05 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 65 of the PMS2 protein (p.Leu65Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. ClinVar contains an entry for this variant (Variation ID: 233710). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000230530 SCV000838197 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000221203 SCV000904853 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-17 criteria provided, single submitter clinical testing

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