Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
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. |
Gene |
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) |