ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.1501C>T (p.Gln501Ter)

dbSNP: rs1558414256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760725 SCV000890617 pathogenic not provided 2018-09-15 criteria provided, single submitter clinical testing The Q501X variant in the FBXO11 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 Q501X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q501X as a pathogenic variant.

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