ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) (rs786205172)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170387 SCV000222805 pathogenic Cockayne syndrome B 2011-07-15 criteria provided, single submitter clinical testing
Counsyl RCV000671320 SCV000796282 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-12-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092478 SCV001249004 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
Invitae RCV001092478 SCV001585614 pathogenic not provided 2020-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1203Argfs*33) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Cockayne syndrome (PMID: 9443879, 19894250). ClinVar contains an entry for this variant (Variation ID: 190168). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). For these reasons, this variant has been classified as Pathogenic.

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