ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1397+1G>C

dbSNP: rs1554793174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665527 SCV000789665 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266078 SCV001444250 likely pathogenic Inborn genetic diseases 2018-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003688869 SCV004431682 likely pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 550708). Disruption of this splice site has been observed in individual(s) with Cockayne syndrome (PMID: 29572252). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 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).

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