ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2286+1G>A

dbSNP: rs1362935450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665459 SCV000789589 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV001855443 SCV002250846 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the ERCC6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of Cockayne syndrome (PMID: 29572252; Invitae). ClinVar contains an entry for this variant (Variation ID: 550657). Studies have shown that disruption of this splice site is associated with altered splicing resulting in unknown protein product impact (PMID: 29572252). For these reasons, this variant has been classified as Pathogenic.

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