ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)

dbSNP: rs1830383454
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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 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).
deCODE genetics, Amgen 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.

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