ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2384G>A (p.Gly795Glu) (rs786203838)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167318 SCV000218168 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-21 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000823982 SCV000964857 uncertain significance Hereditary nonpolyposis colon cancer 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 795 of the PMS2 protein (p.Gly795Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. The frequency data for this variant in the population databases (rs786203838, 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: 187578). 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 and their clinical significance is uncertain. 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.

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