ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1729A>G (p.Lys577Glu) (rs754339271)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164553 SCV000215211 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-27 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000229601 SCV000285085 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 577 of the PMS2 protein (p.Lys577Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs754339271, ExAC 0.003%). This variant has not been reported in the literature in individuals with PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 185184). 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, 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.
Color RCV000164553 SCV000686158 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-11 criteria provided, single submitter clinical testing

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