ClinVar Miner

Submissions for variant NC_000016.9:g.(?_14038570)_(14038702_?)del

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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 RCV003116340 SCV003794784 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ERCC4 protein in which other variant(s) (p.Arg799Trp) have been determined to be pathogenic (PMID: 8797827, 9579555, 20221251, 23623389, 26074087, 27356891, 27528516, 28431612, 28678401, 28767289, 29105242, 29403087, 29892709). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 10 of the ERCC4 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein.

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