ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4063-1G>C (rs766980240)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664549 SCV000788531 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-07-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994388 SCV001147883 likely pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001528150 SCV001451943 pathogenic Cockayne syndrome B criteria provided, single submitter research
Invitae RCV000994388 SCV001590180 pathogenic not provided 2020-06-03 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in the last intron (intron 20) of the ERCC6 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs766980240, ExAC 0.02%). This variant has been observed in individual(s) with Cockayne syndrome (PMID: 19894250, 29572252). ClinVar contains an entry for this variant (Variation ID: 549960). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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