ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) (rs267608167)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234457 SCV000285095 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 651 of the PMS2 protein (p.Lys651Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 237896). 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. 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.
Ambry Genetics RCV000569086 SCV000663447 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-13 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Counsyl RCV000662633 SCV000785317 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2017-07-06 criteria provided, single submitter clinical testing
Color RCV000569086 SCV000903233 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-14 criteria provided, single submitter clinical testing

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