ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs)

dbSNP: rs1554581504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677713 SCV000803866 likely pathogenic Cohen syndrome 2015-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000677713 SCV001580799 pathogenic Cohen syndrome 2022-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559918). This premature translational stop signal has been observed in individual(s) with Cohen syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys3506Hisfs*5) 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).

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