Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV001262052 | SCV001439432 | pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 | 2018-01-01 | criteria provided, single submitter | research | PVS1+PM2+PP4 |
Ambry Genetics | RCV002393674 | SCV002709808 | pathogenic | Cardiovascular phenotype | 2015-04-08 | criteria provided, single submitter | clinical testing | The p.E505* pathogenic mutation (also known as c.1513G>T) located in coding exon 12 of the ENG gene, results from a G to T substitution at nucleotide position 1513. This changes the amino acid from a glutamic acid to a stop codon within coding exon 12. In one study, this mutation was identified in an Italian patient with a diagnosis of HHT (Lenato et al. Hum Mutat. 2006;27(2):213-4). Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
de |
RCV001262052 | SCV004022112 | likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 | 2023-07-21 | no assertion criteria provided | research | The variant NM_001114753.3:c.1513G>T (chr9:127818293) in ENG was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has been reported in ClinVar previously as pathogenic. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic. |