ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)

dbSNP: rs767858119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599308 SCV000710501 likely pathogenic not provided 2019-06-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV000984320 SCV001586998 pathogenic Cohen syndrome 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2375*) 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 present in population databases (rs767858119, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 504191). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000984320 SCV001132505 likely pathogenic Cohen syndrome 2014-04-20 no assertion criteria provided clinical testing

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