ClinVar Miner

Submissions for variant NM_199334.5(THRA):c.518A>G (p.Glu173Gly)

dbSNP: rs1987264133
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin RCV001281098 SCV001468508 likely pathogenic Congenital nongoitrous hypothyroidism 6 2020-12-01 criteria provided, single submitter clinical testing The described THRA variant fulfills the PM2 criteria of the American College of Medical Genetics and Genomics classification (Richards et al. 2015) placing it in the 'likely pathogenic' category.

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