ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100108530)_(100494040_?)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 RCV003119835 SCV003795095 pathogenic Cohen syndrome 2022-09-23 criteria provided, single submitter clinical testing 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 18-19)) have been determined to be pathogenic (PMID: 19533689). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-25 of the VPS13B gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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