ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter)

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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 RCV003606949 SCV004548744 pathogenic Cohen syndrome 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1186*) 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). 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).

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