ClinVar Miner

Submissions for variant NC_000006.11:g.(?_72596727)_(74363609_?)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 RCV001384240 SCV001583654 pathogenic Salla disease 2022-02-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the SLC17A5 gene has been identified. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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