ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)

dbSNP: rs1057516245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411609 SCV000485350 likely pathogenic Cohen syndrome 2016-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411609 SCV002211081 pathogenic Cohen syndrome 2023-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr3780Hisfs*98) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370117). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%).

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