ClinVar Miner

Submissions for variant NC_000003.11:g.(?_170732238)_(170732540_?)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 RCV003111066 SCV003792189 pathogenic Fanconi-Bickel syndrome 2022-06-29 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 SLC2A2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the SLC2A2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in SLC2A2 are known to be pathogenic (PMID: 11810292).

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