ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)

gnomAD frequency: 0.00002  dbSNP: rs763909903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410632 SCV000487092 likely pathogenic Cohen syndrome 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV000410632 SCV001375401 pathogenic Cohen syndrome 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1804Glufs*2) 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 (rs763909903, gnomAD 0.03%). 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: 371494). For these reasons, this variant has been classified as Pathogenic.

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