ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)

dbSNP: rs786205174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170389 SCV000222809 pathogenic Cockayne syndrome type 2 2014-07-29 criteria provided, single submitter clinical testing
Invitae RCV001850426 SCV002165605 pathogenic not provided 2022-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1302*) 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: 190170). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. This variant is present in population databases (rs786205174, gnomAD 0.0009%).

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