ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter)

dbSNP: rs1057256890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388840 SCV001589990 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2020-02-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). This variant has not been reported in the literature in individuals with ACVRL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg291*) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002377578 SCV002685800 pathogenic Cardiovascular phenotype 2021-12-07 criteria provided, single submitter clinical testing The p.R291* pathogenic mutation (also known as c.871A>T), located in coding exon 6 of the ACVRL1 gene, results from an A to T substitution at nucleotide position 871. This changes the amino acid from an arginine to a stop codon within coding exon 6. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, 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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