ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) (rs149636063)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558783 SCV000653872 likely benign Myasthenic syndrome, congenital, 8 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001547858 SCV001767658 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000558783 SCV000747825 uncertain significance Myasthenic syndrome, congenital, 8 2017-07-04 no assertion criteria provided clinical testing The observed variant c.1198C>T (p.Arg400Trp) has a minor allele frequency of 0.0016 and 0.0005 in 1000 Genomes and ExAC databases respectively. The in silico prediction of the variant is benign by MutationTaster2, damaging by SIFT, and probably damaging by PolyPhen2.

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