ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)

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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 RCV001285903 SCV001472408 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-11-01 criteria provided, single submitter clinical testing The ACVRL1 c.295_298dupGTGT; p.Ser100fs 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 causes a frameshift by duplicating 4 nucleotides, 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.

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