ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter)

dbSNP: rs1847921335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780242 SCV002024788 likely pathogenic Cohen syndrome 2020-12-31 criteria provided, single submitter clinical testing
Invitae RCV001780242 SCV004376162 pathogenic Cohen syndrome 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp348*) 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 clinical features of Cohen syndrome (PMID: 34006472). ClinVar contains an entry for this variant (Variation ID: 1012252). For these reasons, this variant has been classified as Pathogenic.

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