ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs)

dbSNP: rs779078202
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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 RCV001375592 SCV001572492 pathogenic Xeroderma pigmentosum 2021-04-02 criteria provided, single submitter clinical testing Variant summary: ERCC5 c.2606_2607delTG (p.Val869GlyfsX11) 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 allele was found at a frequency of 3.2e-05 in 31392 control chromosomes (gnomAD). c.2606_2607delTG (also reported as c.2801_2804delTG) has been reported in the literature in an individual who was compound heterozygous for the variant of interest and another nonsense variant (Emmert_2002). The variant has been subsequently cited by others (example: Chikhaoui_2019, Drury_2014, Schafer_2013). The patient mentioned above was presented with combined features of Xeroderma Pigmentosum (XP) and Cockayne syndrome (CS). Fibroblasts derived from this patient showed marked reduction in post-ultraviolet cell survival and DNA repair (Emmert_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.
GeneDx RCV003229893 SCV003927730 pathogenic not provided 2022-12-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24700531, 12060391)

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