ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu)

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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 RCV002292231 SCV002584646 uncertain significance Xeroderma pigmentosum, group F 2022-06-20 criteria provided, single submitter clinical testing The ERCC4 c.194A>T (p.Gln65Leu) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia or Xeroderma pigmentosum. In summary, the evidence currently available is insufficient to determine the role of this variant in disease. It has therefore been classified as of uncertain significance.

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