ClinVar Miner

Submissions for variant NC_000020.11:g.(?_46709717)_(46733854_?)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 RCV000707821 SCV000836931 pathogenic Arterial tortuosity syndrome 2018-06-14 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SLC2A10 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with SLC2A10-related disease. Loss-of-function variants in SLC2A10 are known to be pathogenic (PMID: 17935213, 22488877, 23494979). For these reasons, this variant has been classified as Pathogenic.

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