ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)

dbSNP: rs121917900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851561 SCV002205787 pathogenic not provided 2021-08-23 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: 1700). This premature translational stop signal has been observed in individual(s) with Cockayne syndrome (PMID: 9443879, 29572252). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp517*) 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).
OMIM RCV000001768 SCV000021924 pathogenic Cockayne syndrome type 2 1998-01-01 no assertion criteria provided literature only

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