ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100286416)_(100673729_?)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 RCV003119822 SCV003795082 pathogenic Cohen syndrome 2021-12-11 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 18-23)) have been determined to be pathogenic (PMID: 32505691). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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) 18-35 of the VPS13B gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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