ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe) (rs191300933)

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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 RCV000215666 SCV000277540 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-05 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000692796 SCV000820639 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 787 of the PMS2 protein (p.Ile787Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. The frequency data for this variant in the population databases (rs191300933, 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. ClinVar contains an entry for this variant (Variation ID: 233208). 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: "Deleterious"; 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759202 SCV000888407 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing

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