ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) (rs1554809450)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506337 SCV000603478 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing The ENG c.1306C>T, p.Gln436Ter variant has been reported in a patient diagnosed with hereditary hemorrhagic telangiectasia (Lenato 2006). It is not listed in the dbSNP variant database, nor observed in the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). The variant introduces a premature termination codon, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the variant is classified as pathogenic. References: Lenato G et al. DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. Hum Mutat. 2006; 27(2):213-4.
Invitae RCV001212134 SCV001383710 pathogenic Hereditary hemorrhagic telangiectasia 2020-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln436*) in the ENG gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with hereditary hemorrhagic telangiectasia (PMID: 16429404, 21158752). ClinVar contains an entry for this variant (Variation ID: 439662). Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000512687 SCV001439484 pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research PVS1+PM2+PP4
Genetics,Medical University of Vienna RCV000512687 SCV000346039 likely pathogenic Hereditary hemorrhagic telangiectasia type 1 no assertion criteria provided clinical testing

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