ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.128_132del (p.Gly43fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002376523 SCV002690721 pathogenic Cardiovascular phenotype 2019-04-14 criteria provided, single submitter clinical testing The c.128_132delGGCCT pathogenic mutation, located in coding exon 2 of the ACVRL1 gene, results from a deletion of 5 nucleotides at nucleotide positions 128 to 132, causing a translational frameshift with a predicted alternate stop codon (p.G43Dfs*124). This alteration was reported in a German proband with a history of epistaxis and telangiectases (Wehner LE et al. Clin. Genet., 2006 Mar;69:239-45). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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