ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100205084)_(100454883_?)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 RCV002007243 SCV002232255 pathogenic Cohen syndrome 2020-12-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 17-23 of the VPS13B gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with VPS13B-related conditions.

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