ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.1373T>C (p.Val458Ala)

dbSNP: rs121918704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000852377 SCV000995052 likely pathogenic Thyroid hormone resistance, generalized, autosomal dominant 2019-10-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986043 SCV001134857 likely pathogenic not provided 2019-02-25 criteria provided, single submitter clinical testing Not found in the gnomAD exomes dataset, and the data is high quality (0/251490 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Located in potentially important domain of the protein. Two other pathogenic or likely pathogenic variants affect the same amino acid. Assessment of experimental evidence suggests this variant results in abnormal protein function.
OMIM RCV000852377 SCV000033639 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 1996-08-01 no assertion criteria provided literature only

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