ClinVar Miner

Submissions for variant NC_000004.11:g.(?_39184178)_(39191421_?)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 RCV004580797 SCV005064821 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with clinical features of WDR19-related conditions (PMID: 29121203). This variant is a gross deletion of the genomic region encompassing exon(s) 1-4 of the WDR19 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WDR19 are known to be pathogenic (PMID: 22019273, 23559409, 23683095, 26275793, 27241786, 29068549).

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