ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) (rs1433888137)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629727 SCV000750683 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-12-28 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 797 of the PMS2 protein (p.Met797Leu). 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 (ExAC) 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. 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.
Counsyl RCV000662650 SCV000785337 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2017-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015369 SCV001176194 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing Insufficient evidence

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