ClinVar Miner

Submissions for variant NC_000007.13:g.(?_65556973)_(65557919_?)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 RCV000793476 SCV000932828 likely pathogenic Argininosuccinate lyase deficiency 2019-02-06 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 15-17 of the ASL gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it 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. This variant has been observed in an individual with clinical features of arginosuccinic aciduria (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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