ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.170T>C (p.Leu57Pro)

gnomAD frequency: 0.00001  dbSNP: rs200401152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763006 SCV001989068 uncertain significance not provided 2021-01-04 criteria provided, single submitter clinical testing Has not been previously published in a peer reviewed article as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002496076 SCV002776782 uncertain significance Familial gestational hyperthyroidism; Familial hyperthyroidism due to mutations in TSH receptor; Hypothyroidism due to TSH receptor mutations 2021-07-10 criteria provided, single submitter clinical testing

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