ClinVar Miner

Submissions for variant NC_000002.11:g.(?_228552113)_(228567034_?)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 RCV001951525 SCV002243916 pathogenic Biotin-responsive basal ganglia disease 2023-10-14 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SLC19A3 gene has been identified. Loss-of-function variants in SLC19A3 are known to be pathogenic (PMID: 23423671, 23482991). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with SLC19A3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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