ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.667del (p.Val223fs) (rs1588582666)

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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 RCV001000933 SCV001158029 pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-12-17 criteria provided, single submitter clinical testing The ENG c.667delG; p.Val223fs variant, also described as c.665delG in the literature, is reported in an individual with hereditary hemorrhagic telangiectasia (Nishida 2012). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Nishida T et al. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. Am J Med Genet A. 2012 Nov;158A(11):2829-34.

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