ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.788T>G (p.Ile263Ser)

dbSNP: rs1085307431
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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 RCV001803611 SCV002049346 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2021-01-20 criteria provided, single submitter clinical testing The ENG c.788T>G; p.Ile263Ser variant, is reported in the literature in an individual with symptoms of HHT (Richards-Yutz 2010). Other variants at this codon (Ile263Asn, Ile263Thr) are also reported in individuals and families with HHT (Chen 2013, Lesca 2004). The p.Ile263Ser variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The isoleucine at codon 263 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, this variant is considered to be likely pathogenic. 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. Lesca G et al. French Rendu-Osler Network. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004 Apr;23(4):289-99. Richards-Yutz J et al. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet. 2010 Jul;128(1):61-77.

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