ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.82T>C (p.Ser28Pro) (rs587781908)

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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 RCV000130248 SCV000185092 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-15 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000233273 SCV000285155 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-19 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 28 of the PMS2 protein (p.Ser28Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs587781908, ExAC 0.005%) but has not been reported in the literature in individuals with a PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 141650). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000130248 SCV000909684 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-04 criteria provided, single submitter clinical testing

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