ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)

dbSNP: rs1554560735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552220 SCV000630890 pathogenic Cohen syndrome 2023-01-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 459250). 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.Gly2706Alafs*29) 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).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001805152 SCV002051475 likely pathogenic not provided 2020-11-16 criteria provided, single submitter clinical testing PVS1, PM2
Counsyl RCV000552220 SCV001132508 likely pathogenic Cohen syndrome 2015-04-08 no assertion criteria provided clinical testing

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