ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter)

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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 RCV003606161 SCV004411105 pathogenic Cohen syndrome 2022-10-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is present in population databases (rs151159090, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Trp3055*) in the VPS13B gene. It is expected to 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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