ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) (rs774791374)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170377 SCV000222792 likely pathogenic Cockayne syndrome B 2012-09-07 criteria provided, single submitter clinical testing
Counsyl RCV000668158 SCV000792712 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-07-20 criteria provided, single submitter clinical testing
Invitae RCV001046396 SCV001210296 pathogenic not provided 2020-03-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu700Valfs*60) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs774791374, ExAC 0.001%). This variant has been observed in individual(s) with clinical features of Cockayne syndrome (PMID: 28170084). ClinVar contains an entry for this variant (Variation ID: 190159). 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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