Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003989119 | SCV004805867 | pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 | 2024-03-15 | reviewed by expert panel | curation | The NM_001114753.3: c.1701del (p.Val568Serfs*5) variant in ENG is a frameshift variant predicted to cause a premature stop codon in biologically relevant exon 13 (out of 15) leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). This variant has been reported in a proband with a phenotype consistent of HHT (PS4_Supporting; Internal lab contributors). In summary, this variant meets the criteria to be classified as pathogenic for autosomal dominant hereditary hemorrhagic telangiectasia based on the ACMG/AMP criteria applied, as specified by the ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel: PVS1, PM2_Supporting, PS4_Supporting (specification version 1.0.0; 1/4/2024). |
ARUP Laboratories, |
RCV000757220 | SCV000885366 | pathogenic | not provided | 2017-09-26 | criteria provided, single submitter | clinical testing | The ENG c.1701delT; p.Val568fs variant has not been reported in the literature, gene-specific databases, or general population databases (Exome Variant Server, Genome Aggregation Database). This variant creates a frameshift and is predicted to result in a truncated protein or absent transcript. Based on this information, c.1701delT is considered pathogenic. |