ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306601 SCV002602630 likely pathogenic Cohen syndrome 2022-01-24 criteria provided, single submitter clinical testing NM_017890.4(VPS13B):c.9469A>T(K3157*) is expected to be pathogenic in the context of Cohen syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in VPS13B, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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