ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.639T>G (p.Tyr213Ter) (rs962224649)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498210 SCV000589859 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing The Y213X pathogenic variant in the ACVRL1 gene has not been reported as pathogenic or benign variant to our knowledge; however, Y213X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Many other downstream nonsense variants in the ACVRL1 gene have been reported in HGMD in association with HHT (Stenson et al., 2014). Furthermore, Y213X has not been observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server), indicating it is not a common benign variant in these populations. In summary, Y213X in the ACVRL1 gene is interpreted as a pathogenic variant.

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