ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239295 SCV001412156 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2019-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu628Leufs*6) in the ERCC4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772899497, ExAC 0.02%). This variant has not been reported in the literature in individuals with ERCC4-related conditions. Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). For these reasons, this variant has been classified as Pathogenic.

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