ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) (rs730881919)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505890 SCV000601847 likely pathogenic not provided 2016-11-23 criteria provided, single submitter clinical testing
Invitae RCV000550672 SCV000625615 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu81*) 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 been observed in an individual with colorectal cancer (PMID: 27589204). ClinVar contains an entry for this variant (Variation ID: 439243). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000662778 SCV000785586 likely pathogenic Hereditary nonpolyposis colorectal cancer type 4 2017-09-28 criteria provided, single submitter clinical testing
Color RCV001182957 SCV001348569 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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