ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2448GAT[1] (p.Met817del)

dbSNP: rs1781510137
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231795 SCV001404327 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-09-13 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PMS2-related conditions. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant, c.2451_2453del, results in the deletion of 1 amino acid(s) of the PMS2 protein (p.Met817del), but otherwise preserves the integrity of the reading frame.
Genetics and Molecular Pathology, SA Pathology RCV002272424 SCV002556816 uncertain significance Hereditary nonpolyposis colorectal carcinoma 2020-08-21 criteria provided, single submitter clinical testing The PMS2 c.2451_2453del variant is classified as VUS (PM2, PM4, PP1)

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