ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)

gnomAD frequency: 0.00001  dbSNP: rs754016783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409835 SCV000487077 likely pathogenic Cohen syndrome 2016-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409835 SCV001583578 pathogenic Cohen syndrome 2020-09-17 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 present in population databases (rs754016783, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Gln1950Thrfs*32) in the VPS13B gene. It is expected to result in an absent or disrupted protein product.

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