ClinVar Miner

Submissions for variant NC_000008.10:g.(?_99346108)_(100589843_?)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 RCV004583243 SCV005062853 pathogenic Cohen syndrome 2019-06-17 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing 1-32 and part of exon 33 (c.-679497_5278del) of the VPS13B gene, and includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with VPS13B-related conditions. 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.

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