ClinVar Miner

Submissions for variant NC_000022.10:g.(?_39621728)_(41077932_?)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 RCV001910122 SCV002178207 uncertain significance Adenylosuccinate lyase deficiency 2021-05-12 criteria provided, single submitter clinical testing In summary, the exact genomic location of this variant is unknown and the impact of this duplication on ADSL protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. Duplication of the entire ADSL sequence has not been reported in the literature in an individual affected with an ADSL-related disease. A gross duplication of the genomic region encompassing the full coding sequence of the ADSL gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome.

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