ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.178G>T (p.Asp60Tyr) (rs587782176)

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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 RCV000130790 SCV000185683 uncertain significance Hereditary cancer-predisposing syndrome 2013-09-18 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV000686892 SCV000814433 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-05-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 60 of the PMS2 protein (p.Asp60Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. 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: 142009). 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 C15"). 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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