ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer)

dbSNP: rs1555468482
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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 RCV000651478 SCV000773330 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2018-03-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ERCC4-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 23623386). 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). This variant is not present in population databases (ExAC no frequency). 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.

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