ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.439C>T (p.Gln147Ter) (rs1555152650)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627223 SCV000748211 pathogenic not provided 2018-04-11 criteria provided, single submitter clinical testing The Q147X variant in the ACVRL1 gene has been reported in a patient with HHT (Letteboer et al., 2005). This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the ACVRL1 gene have been reported in Human Gene Mutation Database in association with HHT (Stenson et al., 2014). Furthermore, the Q147X variant is not observed in large population cohorts (Lek et al., 2016). In summary, Q147X in the HHT gene is interpreted as a pathogenic variant.

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