ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter)

gnomAD frequency: 0.00001  dbSNP: rs567092790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001926373 SCV002207326 pathogenic Cohen syndrome 2021-10-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is present in population databases (rs567092790, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Gln1008*) 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).
Fulgent Genetics, Fulgent Genetics RCV001926373 SCV005672020 likely pathogenic Cohen syndrome 2024-06-20 criteria provided, single submitter clinical testing

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