ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1355C>T (p.Pro452Leu) (rs1555153848)

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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 RCV000507459 SCV000602400 pathogenic not provided 2017-10-18 criteria provided, single submitter clinical testing The ACVRL1 c.1355C>T, p.Pro452Leu variant has been described in the literature in individuals with a clinical diagnosis of hereditary hemorrhagic telangiectasia (Abdalla 2005, Bossler 2006, McDonald 2009). The variant is listed in ClinVar (Variation ID: 439369), but not observed in the general population-based databases (1000 Genomes Project Exome Variant Server, Genome Aggregation Database). The proline at codon 452 is highly conserved (Alamut v2.10), and computational programs (PolyPhen2, SIFT) predict this variant is deleterious to protein function. Taken together, the p.Pro452Leu variant is considered pathogenic. References: Abdalla SA et al. (2005) Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Hum Mutat. 25(3):320-1. Bossler AD et al. (2006) Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Hum Mutat. 27(7):667-75. McDonald J et al. (2009) Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. J Mol Diagn. 11(6):569-75.

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