ClinVar Miner

Submissions for variant NC_000001.11:g.(?_9981011)_(9982721_?)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 RCV000526077 SCV000639243 pathogenic Leber congenital amaurosis 9 2017-04-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 4-5 of the NMNAT1 gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Gross deletions encompassing the same coding exons in the NMNAT1 gene have been reported in 2 families affected with Leber congenital amaurosis (PMID: 26316326). For these reasons, this variant has been classified as Pathogenic.

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