ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2792_2802del (p.Ile931fs)

dbSNP: rs751623760
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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 RCV001380643 SCV001578771 pathogenic not provided 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile931Argfs*35) 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). This variant is present in population databases (rs751623760, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1068941). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005040245 SCV005679830 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 2024-01-23 criteria provided, single submitter clinical testing

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