ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2416A>T (p.Met806Leu) (rs1554293792)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561744 SCV000670865 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-22 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000702033 SCV000830861 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-03-22 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 806 of the PMS2 protein (p.Met806Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. The frequency data for this variant in the population databases is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has not been reported in the literature in individuals with PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 484327). 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, 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.

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