ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.467_468dup (p.Cys157fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003842818 SCV004641434 pathogenic not provided 2023-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ERCC8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys157Thrfs*4) in the ERCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC8 are known to be pathogenic (PMID: 29572252).
Fulgent Genetics, Fulgent Genetics RCV005038562 SCV005673551 likely pathogenic Cockayne syndrome type 1; UV-sensitive syndrome 2 2024-03-18 criteria provided, single submitter clinical testing

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