ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11501del (p.Met3834fs)

gnomAD frequency: 0.00001  dbSNP: rs1394681818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673941 SCV000799200 likely pathogenic Cohen syndrome 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV000673941 SCV001579645 pathogenic Cohen syndrome 2023-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met3859Serfs*19) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 557762). For these reasons, this variant has been classified as Pathogenic.

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