ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)

dbSNP: rs1830384910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044982 SCV001208809 pathogenic Hereditary hemorrhagic telangiectasia 2020-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). This variant has been observed in an individual affected with hereditary haemorrhagic telangiectasia (PMID: 20414677). ClinVar contains an entry for this variant (Variation ID: 842548). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp491Alafs*26) in the ENG gene. It is expected to result in an absent or disrupted protein product.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001263071 SCV001441148 pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2018-01-01 criteria provided, single submitter research PVS1+PM2+PP4
Ambry Genetics RCV002393222 SCV002697523 pathogenic Cardiovascular phenotype 2018-03-05 criteria provided, single submitter clinical testing The c.1472_1475delACAG pathogenic mutation, located in coding exon 12 of the ENG gene, results from a deletion of 4 nucleotides at nucleotide positions 1472 to 1475, causing a translational frameshift with a predicted alternate stop codon (p.D491Afs*26). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Fulgent Genetics, Fulgent Genetics RCV001263071 SCV002802315 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2021-10-19 criteria provided, single submitter clinical testing

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