ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.838A>T (p.Lys280Ter) (rs1588581497)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001118 SCV001158257 pathogenic Hereditary hemorrhagic telangiectasia type 1 2019-02-21 criteria provided, single submitter clinical testing The ENG c.838A>T; p.Lys280Ter variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. ENG loss-of-function is an established mechanism of disease, and truncating variants downstream of p.Lys280Ter are reported in individuals with symptoms or diagnoses of hereditary hemorrhagic telangiectasia and are considered pathogenic (Lesca 2004, McDonald 2011). Based on available information, the p.Lys280Ter variant is considered to be pathogenic. References: Lesca G et al. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004 Apr;23(4):289-99. McDonald J et al. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin Genet. 2011 Apr;79(4):335-44.

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