ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter)

dbSNP: rs121909289
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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 RCV001063612 SCV001228467 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-01-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp399*) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). A different variant (c.1197G>A) giving rise to the same protein effect observed here (p.Trp399*) has been determined to be pathogenic (Invitae). This suggests that this variant is also likely to be causative of disease. This variant has not been reported in the literature in individuals with ACVRL1-related conditions.
Ambry Genetics RCV002339315 SCV002640588 pathogenic Cardiovascular phenotype 2018-12-29 criteria provided, single submitter clinical testing The p.W399* pathogenic mutation (also known as c.1196G>A), located in coding exon 7 of the ACVRL1 gene, results from a G to A substitution at nucleotide position 1196. This changes the amino acid from a tryptophan to a stop codon within coding exon 7. 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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