ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.1556G>A (p.Arg519His)

gnomAD frequency: 0.00004  dbSNP: rs780018604
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001118350 SCV001276623 uncertain significance Familial hyperthyroidism due to mutations in TSH receptor 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001118351 SCV001276624 uncertain significance Hypothyroidism due to TSH receptor mutations 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV002245863 SCV002512817 pathogenic not provided 2022-04-21 criteria provided, single submitter clinical testing Reported both in the heterozygous state and with a second TSHR variant in patients with hypothyroidism in the published literature (Abe et al., 2018; de Fillippis et al., 2017); Published functional studies demonstrate mislocalization and loss of enzymatic function (Sugisawa et al., 2021); This variant is associated with the following publications: (PMID: 32425884, 33726816, 33108452, 29546359, 28444304, 29092890)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001118351 SCV004804790 likely pathogenic Hypothyroidism due to TSH receptor mutations 2024-03-17 criteria provided, single submitter research

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