ClinVar Miner

Submissions for variant NC_000001.11:g.(?_9981031)_(9982701_?)dup

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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 RCV004584025 SCV005065141 pathogenic Leber congenital amaurosis 9 2024-01-18 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 4-5 of the NMNAT1 gene. This region includes the termination codon of the gene. This copy number gain extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number variant has been observed in individuals with clinical features of Leber congenital amaurosis (PMID: 32533184, 33668384; Invitae). Studies have shown that a similar copy number variant alters NMNAT1 gene expression (PMID: 32533184). Studies have shown that a similar copy number variant is associated with altered splicing resulting in multiple RNA products (PMID: 32533184). For these reasons, this variant has been classified as Pathogenic.

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