ClinVar Miner

Submissions for variant NC_000006.11:g.(?_117996834)_(118028178_?)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 RCV004578691 SCV005067429 pathogenic Congenital disorder of glycosylation, type IAA 2023-09-25 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NUS1 gene has been identified. Loss-of-function variants in NUS1 are known to be pathogenic (PMID: 29100083). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of NUS1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 31273557). For these reasons, this variant has been classified as Pathogenic.

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