ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.788T>A (p.Ile263Asn) (rs1085307431)

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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 RCV000757217 SCV000885361 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing The ENG c.788T>A;p.Ile263Asn variant has been described in individuals with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension (Chen 2013, Machado 2015). The variant is listed in the ClinVar database (Variation ID: 426042), but not in the dbSNP variant database or the general population-based databases (Exome Variant Server, Genome Aggregation Database). The amino acid at this position is moderately conserved across species and computational algorithms (PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, this variant cannot be classified with certainty. References: Chen YJ et al. Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. Eur J Clin Invest. 2013 Oct;43(10):1016-24. Machado RD et al. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec;36(12):1113-27.
Medical & Molecular Genetics Group,University of Lincoln RCV000488736 SCV000576354 pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia no assertion criteria provided literature only

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