ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1499del (p.Pro500fs)

dbSNP: rs2132582100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384069 SCV001583448 pathogenic not provided 2023-04-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro500Glnfs*43) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071564). This premature translational stop signal has been observed in individual(s) with Cockayne syndrome (PMID: 19894250). This variant is not present in population databases (gnomAD no frequency).

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