ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6657+2T>C

dbSNP: rs1832966881
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230895 SCV001403395 pathogenic Cohen syndrome 2019-08-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change affects a donor splice site in intron 37 of the VPS13B gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with Cohen syndrome (PMID: 15141358, 16648375, 25472526). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111).

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