ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter)

dbSNP: rs2141946068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001554280 SCV001775508 likely pathogenic Fanconi anemia complementation group Q 2021-07-29 criteria provided, single submitter clinical testing The ERCC4 c.616C>T (p.Gln206Ter) change is a nonsense variant that is predicted to cause premature protein truncation and loss of normal protein function (PVS1). This variant is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). To our knowledge, this variant has not been reported in individuals with Fanconi anemia or Xeroderma pigmentosum. In summary, this variant meets criteria to be classified as likely pathogenic based on the ACMG/AMP criteria: PVS1, PM2_supporting.

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