ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1027C>T (p.Gln343Ter) (rs1064796530)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482644 SCV000573331 pathogenic not provided 2018-07-20 criteria provided, single submitter clinical testing The Q343X pathogenic variant in the ACVRL1 gene has been previously reported in a newborn with HHT who was found to have cardiomegaly and hepatic AVMs on prenatal ultrasound (Saleh et al., 2016). This newborn underwent increased prenatal screening due to a deceased older sibling whose neonatal autopsy revealed cardiomegaly and CHF secondary to hepatic AVMs; although no DNA was available to test the deceased sibling, Q343X was subsequently identified in the siblings' mildly affected father and their unaffected older sister (Saleh et al., 2016). This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Many other nonsense variants in the ACVRL1 gene have been reported in Human Gene Mutation Database in association with HHT (Stenson et al., 2014). Furthermore, Q343X is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).In summary, Q343X in the ACVRL1 gene is interpreted as a pathogenic variant.

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