ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter)

dbSNP: rs1563700205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685890 SCV000813390 pathogenic Cohen syndrome 2020-03-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). This variant has not been reported in the literature in individuals with VPS13B-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln978*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV000685890 SCV000893768 pathogenic Cohen syndrome 2018-10-31 criteria provided, single submitter clinical testing

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