ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.48G>A (p.Trp16Ter) (rs34716011)

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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 RCV000508624 SCV000605843 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589075 SCV000697136 pathogenic beta Thalassemia 2017-02-13 criteria provided, single submitter clinical testing Variant summary: The HBB c.48G>A (p.Trp16X) variant results in a premature termination codon, predicted to cause a truncated or absent HBB 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 (e.g. p.Lys18fsX2, p.Lys18X, p.Trp38fsX24). One in silico tool predicts a damaging outcome for this variant. The variant has been reported in numerous affected individuals in the literature and is absent in 121364 control chromosomes. In addition, a different variant (c.47G>A) leading to the same amino acid change has been classified as pathogenic, further supporting the pathogenic role of the variant of interest. Taken together, this variant is classified as pathogenic.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000589075 SCV000746342 pathogenic beta Thalassemia 2017-12-03 criteria provided, single submitter clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000589075 SCV001244643 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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