ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.184A>T (p.Lys62Ter) (rs33995148)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506527 SCV000601255 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001078254 SCV001338370 pathogenic beta Thalassemia 2020-02-17 criteria provided, single submitter clinical testing Variant summary: HBB c.184A>T (p.Lys62X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251424 control chromosomes. c.184A>T has been reported in the literature as an African American variant originally identified in one individual affected with severe transfusion dependent Beta Thalassemia (Gonzalez-Redondo_1988). It has subsequently been cited in the literature and locus specific databases. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic citing the original literature report. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000016661 SCV000036930 pathogenic beta^0^ Thalassemia 1988-09-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078254 SCV001244397 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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