Submissions for variant NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)

gnomAD frequency: 0.00004  dbSNP: rs906755254

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000592438	SCV000708797	pathogenic	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Counsyl	RCV000674384	SCV000799709	likely pathogenic	DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2	2018-05-02	criteria provided, single submitter	clinical testing
Invitae	RCV000592438	SCV001582266	pathogenic	not provided	2023-10-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg947*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is present in population databases (no rsID available, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Cockayne syndrome (PMID: 29572252). ClinVar contains an entry for this variant (Variation ID: 502165). For these reasons, this variant has been classified as Pathogenic.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000592438	SCV001952558	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000592438	SCV001964865	pathogenic	not provided		no assertion criteria provided	clinical testing