ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) (rs1554304745)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663233 SCV000786435 likely pathogenic Hereditary nonpolyposis colorectal cancer type 4 2018-04-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985908 SCV001134598 likely pathogenic not provided 2019-02-03 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the gnomAD exomes dataset, and the data is high quality (0/242162 chr).
Invitae RCV001064263 SCV001229152 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-04-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys91Leufs*9) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 548899). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
Color RCV001177939 SCV001342255 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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