ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1442dup (p.Leu482fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003712515 SCV004478349 pathogenic not provided 2023-06-11 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 ERCC6-related conditions. This variant is present in population databases (rs777446958, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Leu482Alafs*6) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252).

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