ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1336C>T (p.Gln446Ter)

dbSNP: rs1554634138
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599085 SCV000710380 pathogenic not provided 2018-11-30 criteria provided, single submitter clinical testing The Q446X variant in the VPS13B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q446X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q446X as a pathogenic variant.

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