ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)

dbSNP: rs386834084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050075 SCV000795083 likely pathogenic Cohen syndrome 2017-10-26 criteria provided, single submitter clinical testing
Invitae RCV000050075 SCV002121149 pathogenic Cohen syndrome 2023-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1445Argfs*7) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Cohen syndrome (PMID: 15141358). ClinVar contains an entry for this variant (Variation ID: 56662). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050075 SCV000082484 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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