ClinVar Miner

Submissions for variant NC_000016.9:g.(?_70286624)_(70296447_?)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 RCV002236762 SCV002510039 uncertain significance Charcot-Marie-Tooth disease type 2 2024-01-31 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 12-21 of the AARS 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 autosomal dominant AARS-related conditions (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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