ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)

dbSNP: rs1940959480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262031 SCV001439406 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-01-01 criteria provided, single submitter research PM2+PM1+PP4
Ambry Genetics RCV002393673 SCV002696978 uncertain significance Cardiovascular phenotype 2019-02-23 criteria provided, single submitter clinical testing The c.1460_1462delAGA variant (also known as p.K487DEL) is located in coding exon 9 of the ACVRL1 gene. This variant results from an in-frame AGA deletion at nucleotide positions 1460 to 1462. This results in the in-frame deletion of a lysine at codon 487. The variant has been reported in an individual with a clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT) (Gedge F et al. J Mol Diagn, 2007 Apr;9:258-65). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious/neutral byinsilico analysis (Choi Y et al., PLoS ONE 2012; 7(10):e46688). Based on available evidence to date, the clinical significance of this alteration remains unclear.
GeneDx RCV003236885 SCV003935446 likely pathogenic not provided 2022-12-21 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17384219, 32573726)

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