ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309339 SCV002603150 likely pathogenic Cohen syndrome 2022-02-02 criteria provided, single submitter clinical testing NM_017890.4(VPS13B):c.10736T>A(L3579*) 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.
Invitae RCV002309339 SCV003202036 pathogenic Cohen syndrome 2022-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu3579*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111).

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