ClinVar Miner

Submissions for variant NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) (rs200197424)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000406538 SCV000350424 uncertain significance Adrenocorticotropic hormone deficiency 2017-11-13 criteria provided, single submitter clinical testing The TBX19 c.535C>T (p.Arg179Ter) is a stop-gained variant that is predicted to result in premature termination of the protein. The p.Arg179Ter variant has been reported in a single study in which it was identified in a homozygous state in one individual with neonatal onset ACTH deficiency and in a heterozygous state in the unaffected consanguineous parents (Pulichino et al. 2003). Control data are unavailable for this variant, which is reported at a frequency of 0.00004 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence and potential impact of stop-gained variants, the p.Arg179Ter variant is classified as a variant of unknown significance, but suspicious for pathogenicity, for ACTH deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000406538 SCV000805091 pathogenic Adrenocorticotropic hormone deficiency 2014-05-28 no assertion criteria provided clinical testing

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