ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) (rs587781541)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129553 SCV000184333 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-30 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000696062 SCV000824609 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 165 of the PMS2 protein (p.Thr165Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 141163). 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.
Fulgent Genetics,Fulgent Genetics RCV000765967 SCV000897388 uncertain significance Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4 2018-10-31 criteria provided, single submitter clinical testing
Color RCV000129553 SCV001360035 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-02 criteria provided, single submitter clinical testing

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