ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)

dbSNP: rs751787590
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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 RCV001286121 SCV001472647 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2020-05-29 criteria provided, single submitter clinical testing The ENG c.1216C>G; p.Arg406Gly variant (rs751787590), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 406 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of this variant is uncertain at this time.
Invitae RCV001871683 SCV002242396 likely benign Hereditary hemorrhagic telangiectasia 2022-07-25 criteria provided, single submitter clinical testing

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