ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2014-2A>G

dbSNP: rs1588095580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000984495 SCV001132546 pathogenic Cohen syndrome 2018-11-15 criteria provided, single submitter research The homozygous c.2014-2A>G variant in VPS13B was identified by our study in two siblings with Cohen Syndrome. This variant was absent from large population studies. The c.2014-2A>G variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the VPS13B gene is an established disease mechanism in autosomal recessive Cohen Syndrome, and this is a loss of function variant. In summary, this variant is pathogenic.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702873 SCV001930017 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702873 SCV001959449 likely pathogenic not provided no assertion criteria provided clinical testing

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