ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100286406)_(100520159_?)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 RCV003119820 SCV003795080 pathogenic Cohen syndrome 2021-12-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.2516_4299del. A similar copy number variant has been observed in individual(s) with Cohen syndrome (PMID: 16648375). This variant is a gross deletion of the genomic region encompassing exon(s) 18-28 of the VPS13B 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 VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111).

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