ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)

dbSNP: rs1057516494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412148 SCV000485771 likely pathogenic Cohen syndrome 2016-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000412148 SCV002232941 pathogenic Cohen syndrome 2021-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2182*) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 370444). For these reasons, this variant has been classified as Pathogenic.

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