ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)

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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 RCV001289606 SCV001477568 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2019-10-17 criteria provided, single submitter clinical testing The ENG c.1807G>A; p.Gly603Arg variant is reported in the literature in an individual with HHT (Richards-Yutz 2010). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 603 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. This variant is predicted to create a cryptic splice acceptor site, which may alter splicing (Alamut v.2.11). Due to the limited information, the clinical significance of this variant is uncertain at this time. REFERENCES 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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