ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)

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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 RCV001289855 SCV001477854 likely pathogenic Hereditary hemorrhagic telangiectasia type 1 2019-10-21 criteria provided, single submitter clinical testing The ENG c.1645T>G; p.Cys549Gly variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The cysteine at codon 549 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, two different variants at this codon (Cys549Arg, Cys549Tyr) have been identified by our laboratory in multiple individuals affected with HHT and are considered to be pathogenic, giving further support of the importance of this residue. Based on available information, the p.Cys549Gly variant is considered to be likely pathogenic.

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