ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter)

dbSNP: rs1833092121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001170004 SCV001251876 pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814277 SCV001755311 likely pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002557468 SCV003321261 pathogenic Cohen syndrome 2022-02-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This sequence change creates a premature translational stop signal (p.Gln2311*) 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). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 915394). For these reasons, this variant has been classified as Pathogenic.

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