ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1500del (p.Val501fs) (rs759151952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694702 SCV000823159 pathogenic Hereditary nonpolyposis colon cancer 2018-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val501Trpfs*94) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs759151952, ExAC 0.03%). This variant has been reported in the homozygous state in an individual affected with constitutional mismatch repair deficiency (CMMRD) (PMID: 28381238) and in the heterozygous state in an individual affected with breast cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 224541). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
University of Washington Department of Laboratory Medicine,University of Washington RCV000210104 SCV000266118 pathogenic Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing

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