ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs)

dbSNP: rs1287286877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674275 SCV000799584 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2018-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386142 SCV001586274 pathogenic not provided 2023-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1198Argfs*4) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Cockayne syndrome (PMID: 19894250). For these reasons, this variant has been classified as Pathogenic.

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