ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter)

dbSNP: rs1554875154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670522 SCV000795382 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382561 SCV001581401 pathogenic not provided 2020-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). This variant has been observed in individual(s) with Cockayne syndrome (PMID: 29572252). ClinVar contains an entry for this variant (Variation ID: 554825). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1210*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product.

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