ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.899T>C (p.Leu300Pro) (rs1335718486)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757215 SCV000885359 pathogenic not provided 2017-09-22 criteria provided, single submitter clinical testing The ENG c.899T>C, p.Leu300Pro variant has been reported in a family affected with hereditary hemorrhagic telangiectasia (Gedge 2007), segregating with the disease in multiple family members (Bayrak-Toydemir 2008). It is not observed in the general population databases, such as the 1000 Genomes Project, the Exome Variant Server, or the Genome Aggregation Database. The leucine at residue 300 is moderately conserved, and computational algorithms (Align GV/GD, PolyPhen-2, SIFT) predict that the variant has an impact on the protein. Based on the above information, the variant is classified as pathogenic. REFERENCES Bayrak-Toydemir P et al. Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model. Exp Mol Pathol. 2008 Aug;85(1):45-9. Gedge F et al. Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn. 2007 Apr;9(2):258-65.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001263078 SCV001441158 likely pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research PM2+PM1+PP4+PP5

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