ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) (rs765825423)

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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 RCV000170390 SCV000222810 likely pathogenic Cockayne syndrome B 2013-10-22 criteria provided, single submitter clinical testing
Counsyl RCV000666483 SCV000790787 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-04-10 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV000666483 SCV001251489 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B criteria provided, single submitter research The c.3952_3953delAG (p.R1318Gfs) variant is a frameshift deletion of two nucleotides predicted to result in a nonfunctional ERCC6 protein.
Invitae RCV001231998 SCV001404539 pathogenic not provided 2019-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1318Glyfs*12) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs765825423, ExAC 0.002%). This variant has been observed in individuals affected with Cockayne syndrome type B (PMID: 29572252). ClinVar contains an entry for this variant (Variation ID: 190171). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). For these reasons, this variant has been classified as Pathogenic.

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