ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)

dbSNP: rs727504219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790673 SCV000230820 pathogenic not provided 2014-04-14 criteria provided, single submitter clinical testing
Counsyl RCV000178693 SCV000485413 likely pathogenic Cohen syndrome 2015-12-07 criteria provided, single submitter clinical testing
Invitae RCV000178693 SCV002213583 pathogenic Cohen syndrome 2021-03-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 167832). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu2982*) 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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