ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1043G>A (p.Trp348Ter)

dbSNP: rs2132516120
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, Department of Biology, Semnan University RCV002271984 SCV002555585 pathogenic Cohen syndrome 2020-07-02 criteria provided, single submitter case-control The WES analysis identified a nonsense mutation in the VPS13B gene on chromosome8 (NM_015243.3); chr8:99121282,c.G1043A:p.W348X. The mutation was predicted to be pathogenic based on ACMG guidelines. Our review of the public resources, local population database, and the literature revealed that there is no previous publication describing this mutation.

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