ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.2751del (p.Lys917fs) (rs752661599)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194154 SCV001363456 pathogenic Xeroderma pigmentosum 2019-10-21 criteria provided, single submitter clinical testing Variant summary: ERCC5 c.2751delA (p.Lys917AsnfsX65) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 248226 control chromosomes (gnomAD). c.2751delA has been reported in the literature in a compound heterozygous individual affected with Xeroderma pigmentosum (Lalle_2002). These data indicate that the variant is likely to be associated with disease. In functional studies, the cells transfected with the variant were highly UV sensitive compared to control cells (Lalle_2002).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 pathogenic.
OMIM RCV000018044 SCV000038323 pathogenic Xeroderma pigmentosum, group G 2002-02-01 no assertion criteria provided literature only

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