ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100286406)_(100874194_?)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 RCV001382979 SCV001581959 pathogenic Cohen syndrome 2022-07-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 18-58 of the VPS13B gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the VPS13B protein in which other variant(s) (Deletion (Exons 18-21)) have been determined to be pathogenic (PMID: 16648375). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. A similar copy number variant has been observed in individual(s) with Cohen syndrome (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.

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