ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)

dbSNP: rs138385061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536615 SCV002966441 pathogenic not provided 2022-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 627443). This premature translational stop signal has been observed in individual(s) with clinical features of ERCC3-related conditions (PMID: 31541171). This variant is present in population databases (rs138385061, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg195*) in the ERCC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC3 are known to be pathogenic (PMID: 16947863).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800578 SCV005422943 pathogenic Xeroderma pigmentosum 2024-10-08 criteria provided, single submitter clinical testing Variant summary: ERCC3 c.583C>T (p.Arg195X) 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 1.6e-05 in 251470 control chromosomes. c.583C>T has been reported in the literature in individuals affected with ERCC3-related conditions (e.g. Yuan_2020). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 31541171). ClinVar contains an entry for this variant (Variation ID: 627443). Based on the evidence outlined above, the variant was classified as pathogenic.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000770819 SCV000902307 pathogenic Xeroderma pigmentosum group B 2019-02-26 no assertion criteria provided case-control

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