ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)

dbSNP: rs941969577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411971 SCV000485513 likely pathogenic Cohen syndrome 2015-12-28 criteria provided, single submitter clinical testing
Invitae RCV000411971 SCV000931110 pathogenic Cohen syndrome 2018-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3254*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with VPS13B-related disease. ClinVar contains an entry for this variant (Variation ID: 370254). Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). For these reasons, this variant has been classified as Pathogenic.

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