ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.1975del (p.Ser659fs)

dbSNP: rs1882806435
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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 RCV002266208 SCV002547789 pathogenic Xeroderma pigmentosum 2022-04-05 criteria provided, single submitter clinical testing Variant summary: ERCC5 c.1975delA (p.Ser659ValfsX2) 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 250700 control chromosomes. c.1975delA has been reported in the literature in individuals affected with Xeroderma Pigmentosum (example, Nouspikel_1997 cited in Chikhaoui_2019). These data indicate that the variant may be associated with disease. 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 RCV002266207 SCV000038316 pathogenic Xeroderma pigmentosum group G/Cockayne syndrome 1997-04-01 no assertion criteria provided literature only

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