ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)

dbSNP: rs180177363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050086 SCV000220447 likely pathogenic Cohen syndrome 2014-06-23 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV000050086 SCV003440809 pathogenic Cohen syndrome 2022-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1810Serfs*21) 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 VPS13B-related conditions (PMID: 12730828, 30843084). ClinVar contains an entry for this variant (Variation ID: 56673). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050086 SCV000082495 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
SNPedia RCV000058899 SCV000090420 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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