ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) (rs786205171)

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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 RCV000170386 SCV000222804 pathogenic Cockayne syndrome B 2012-09-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224382 SCV000281408 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing
Counsyl RCV000666242 SCV000790500 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-04-03 criteria provided, single submitter clinical testing
Invitae RCV000224382 SCV001397216 pathogenic not provided 2019-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1179Leufs*22) 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 several individuals affected with Cockayne syndrome (PMID: 9443879, 21228398, 29572252, 19894250). ClinVar contains an entry for this variant (Variation ID: 190167). 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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