ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.2427del (p.Asp809fs)

dbSNP: rs777455688
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Total submissions: 5
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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 RCV001732003 SCV001983398 likely pathogenic Xeroderma pigmentosum 2021-09-20 criteria provided, single submitter clinical testing Variant summary: ERCC5 c.2427delT (p.Asp809GlufsX24) 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 allele was found at a frequency of 4e-06 in 251414 control chromosomes. c.2427delT has been reported in the literature in one individual with severe fetal presentation (Monies_2019). 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. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV000985070 SCV002073828 pathogenic Cerebrooculofacioskeletal syndrome 3 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV001784482 SCV002502238 pathogenic not provided 2022-03-16 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001784482 SCV004806580 pathogenic not provided 2024-03-26 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985070 SCV001133018 likely pathogenic Cerebrooculofacioskeletal syndrome 3 2019-09-26 no assertion criteria provided clinical testing

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