ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-29G>A (rs34704828)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781439 SCV000919459 pathogenic Hemoglobinopathy 2018-05-30 criteria provided, single submitter clinical testing Variant summary: HBB c.-29G>A is located in the untranslated mRNA region 29 nucleotides upstream of the initiation codon. The variant was absent in 245460 control chromosomes. c.-29G>A has been reported in the literature in multiple individuals affected with Beta Thalassemia, including homozygous and compound heterozygous individuals with Beta Thalassemia major and intermedia. These data indicate that the variant is very likely to be associated with disease. One publication reports in vitro evidence suggesting that the variant mildly reduces transcription (58% of normal transcription) and is consistent with a mild Beta Thalassemia phenotype (Lewis_2000). One reputable database has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
GeneReviews RCV000445640 SCV000537290 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only

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