ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs)

dbSNP: rs386834054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000050041 SCV002243712 pathogenic Cohen syndrome 2021-03-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Cohen syndrome (PMID: 17990063). This variant is also known as c.10074_ 10075delCA (p.G3358fs29). ClinVar contains an entry for this variant (Variation ID: 56628). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr3359Serfs*29) 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).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050041 SCV000082450 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000050041 SCV001432377 likely pathogenic Cohen syndrome no assertion criteria provided clinical testing

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