ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3071-1G>A

dbSNP: rs1554875287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666961 SCV000791339 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003660823 SCV004376778 pathogenic not provided 2023-08-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 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 individual(s) with Cockayne syndrome (PMID: 33904453). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 551813). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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