ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.1514G>A (p.Ser505Asn)

dbSNP: rs121908876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002468962 SCV002765661 likely pathogenic not provided 2022-06-17 criteria provided, single submitter clinical testing Published functional studies demonstrate a gain-of-function effect: constitutively activated cAMP cascade (Holzapfel et al., 1997); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 9360555, 11012571, 16513835, 10482366, 19636218, 15163335)
OMIM RCV000006820 SCV000027016 pathogenic Familial hyperthyroidism due to mutations in TSH receptor 1997-11-01 no assertion criteria provided literature only

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