ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) (rs1555468482)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651478 SCV000773330 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2018-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr577*) in the ERCC4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ERCC4-related disease. A different variant (c.1730_1731insA) giving rise to the same protein effect observed here (p.Tyr577*) has been reported in an individual affected with Cockayne syndrome (PMID: 23623389). Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 23623386). For these reasons, this variant has been classified as Pathogenic.

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