ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8622-2A>G

dbSNP: rs386834115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000050109 SCV002232984 pathogenic Cohen syndrome 2021-04-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has been observed in individual(s) with Cohen syndrome (PMID: 15141358). ClinVar contains an entry for this variant (Variation ID: 56696). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 47 of the VPS13B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050109 SCV000082518 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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