ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter)

dbSNP: rs2132581276
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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 RCV001388912 SCV001590065 pathogenic Cohen syndrome 2020-08-03 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.Leu586*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product.

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