ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3068del (p.Thr1023fs)

dbSNP: rs2133312827
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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 RCV001387057 SCV001587551 pathogenic Cohen syndrome 2020-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). 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.Thr1023Lysfs*4) in the VPS13B gene. It is expected to result in an absent or disrupted protein product.

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