ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1181A>G (p.Lys394Arg)

dbSNP: rs1583323684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818381 SCV000958991 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-10-31 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PMS2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 394 of the PMS2 protein (p.Lys394Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine.
GeneDx RCV001759595 SCV002007178 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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