ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)

dbSNP: rs1057516287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412237 SCV000485416 likely pathogenic Cohen syndrome 2015-12-07 criteria provided, single submitter clinical testing
Invitae RCV000412237 SCV002157846 pathogenic Cohen syndrome 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2140*) 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 variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 370170). For these reasons, this variant has been classified as Pathogenic.

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