ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter)

dbSNP: rs121918705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578820 SCV000680762 pathogenic not provided 2017-11-27 criteria provided, single submitter clinical testing The C434X variant in the THRB gene has been reported previously in an individual with resistance to thyroid hormone and severe intellectual disability (Behr et al., 1997). This variant is predicted to cause loss of normal protein function through protein truncation, as the last 28 amino acids are lost. Functional studies demonstrate a damaging effect with dominant negative activity, silencing of basal gene transcription, and abnormal DNA-binding properties (Behr et al., 1997). The C434X variant is not observed in large population cohorts (Lek et al., 2016). We interpret C434X as a pathogenic variant.
OMIM RCV000013393 SCV000033640 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 1997-04-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000013393 SCV000692427 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 2011-05-05 no assertion criteria provided clinical testing

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