ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10327del (p.Val3443fs)

dbSNP: rs1816408985
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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 RCV001235561 SCV001408252 pathogenic Cohen syndrome 2019-08-22 criteria provided, single submitter clinical testing Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with VPS13B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val3468Serfs*2) in the VPS13B gene. It is expected to result in an absent or disrupted protein product.

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