ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs)

dbSNP: rs386834096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000050089 SCV001589944 pathogenic Cohen syndrome 2021-08-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 56676). This variant is also known as c.5730_5731insA. This premature translational stop signal has been observed in individual(s) with Cohen syndrome (PMID: 15141358). This variant is present in population databases (rs757201708, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Ile1913Asnfs*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).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050089 SCV000082498 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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