ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) (rs587782875)

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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 RCV000132505 SCV000187601 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-29 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000462277 SCV000551930 uncertain significance Lynch syndrome 2016-05-20 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 350 of the PMS2 protein (p.Leu350Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 142991). 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, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000132505 SCV000909661 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985900 SCV001134573 uncertain significance not provided 2019-06-30 criteria provided, single submitter clinical testing

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