ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)

dbSNP: rs386834058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000050045 SCV000957659 pathogenic Cohen syndrome 2018-10-29 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 been observed in individuals affected with Cohen syndrome (PMID: 17990063). ClinVar contains an entry for this variant (Variation ID: 56632). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu3709Serfs*61) in the VPS13B gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV000050045 SCV002797994 pathogenic Cohen syndrome 2022-05-17 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050045 SCV000082454 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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