ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2588G>T (p.Ter863Leu) (rs1554292688)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629806 SCV000750762 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-11-28 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the PMS2 mRNA. It is expected to extend the length of the PMS2 protein by 2 additional amino acid residues. This variant is not present in the population databases (ExAC no frequency), however, the frequency data is considered unreliable due to the presence of a pseudogene that has strong homology to this region. This variant has not been reported in the literature in individuals with PMS2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the additional amino acids are currently unknown. 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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