ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys)

gnomAD frequency: 0.00001  dbSNP: rs1354053223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000054 SCV000602249 uncertain significance not provided 2024-09-05 criteria provided, single submitter clinical testing The THRB c.1029T>G (p.Asn343Lys) variant has been reported in the published literature in individuals with resistance to thyroid hormone (RTH) (PMID: 8535442 (1995)). The frequency of this variant in the general population, 0.0000066 (1/151910 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581494 SCV000692421 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 2008-05-06 no assertion criteria provided clinical testing

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