ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9331-1G>A

dbSNP: rs386834119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409532 SCV000485895 likely pathogenic Cohen syndrome 2016-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409532 SCV001585869 pathogenic Cohen syndrome 2024-11-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 51 of the VPS13B gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Cohen syndrome (PMID: 15154116, 19190672). ClinVar contains an entry for this variant (Variation ID: 370547). Studies have shown that disruption of this splice site results in a 16-bp deletion, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 15154116, 19190672). For these reasons, this variant has been classified as Pathogenic.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000409532 SCV002583761 pathogenic Cohen syndrome 2022-07-20 criteria provided, single submitter clinical testing PVS1, PM2, PM3

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