ClinVar Miner

Submissions for variant NM_000380.3(XPA):c.666dup (p.Val223fs) (rs1554701103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668902 SCV000793577 likely pathogenic Xeroderma pigmentosum, type 1 2017-08-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781922 SCV000920348 likely pathogenic Xeroderma pigmentosum 2018-06-08 criteria provided, single submitter clinical testing Variant summary: XPA c.666dupA (p.Val223SerfsX23) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 245964 control chromosomes (gnomAD). The variant, c.666dupA, has been reported in the literature in individuals affected with Xeroderma Pigmentosum (Cleaver_1999). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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