ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1701del (p.Val568fs)

dbSNP: rs1564452060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 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, Molecular Genetics and Genomics, 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.

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