ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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 type 2 2012-09-07 criteria provided, single submitter clinical testing
Counsyl RCV000668158 SCV000792712 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001046396 SCV001210296 pathogenic not provided 2023-07-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 190159). This premature translational stop signal has been observed in individual(s) with clinical features of Cockayne syndrome (PMID: 28170084). This variant is present in population databases (rs774791374, gnomAD 0.002%). 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. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252).

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