ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.916_917del (p.Asp306fs)

dbSNP: rs386834117
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Total submissions: 3
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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 RCV000050111 SCV000803862 likely pathogenic Cohen syndrome 2015-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000050111 SCV004295248 pathogenic Cohen syndrome 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp306Tyrfs*9) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Cohen syndrome (PMID: 19006247). ClinVar contains an entry for this variant (Variation ID: 56698). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050111 SCV000082520 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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