ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1390G>A (p.Asp464Asn) (rs1394213772)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506500 SCV000601816 uncertain significance not specified 2017-01-23 criteria provided, single submitter clinical testing
Invitae RCV000529819 SCV000625520 uncertain significance Hereditary nonpolyposis colon cancer 2017-03-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 464 of the PMS2 protein (p.Asp464Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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. 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect 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.
Ambry Genetics RCV000564590 SCV000663512 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-17 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000564590 SCV001358282 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-01 criteria provided, single submitter clinical testing

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