ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-142C>T (rs34883338)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000445639 SCV000537287 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000589915 SCV000697082 uncertain significance not provided 2016-08-17 criteria provided, single submitter clinical testing Variant Summary: HBB c.-142T>C is a 5'UTR variant that occurs at a conserved position, and Mutation Taster predicts it to be disease-causing. The allele frequency in publically available population cohorts cannot be determined since the technology used to sequence these cohorts does not detect 5UTR regions. Functional study showed decreased protein expression and loss of interactions with transcription factors (Fauxman Bass, 2015). OMIM lists the variant as pathogenic, but clinical labs have not reported a classification in ClinVar. Based on literature reports, the compound heterozygotes of this variant with a structural hemoglobinopathy variant such as HbS are unaffected, as are pure carriers who show mild trait. But compounds with another BTHAL variant have BTHAL-ITMD. Due to varying severity depending upon the background of the co-inherited variant, an exact genotype-phenotype correlation cannot be made reliably. Taken together, the variant is classified as a VUS-possibly pathogenic until additional information is available.
OMIM RCV000016720 SCV000036990 pathogenic Beta-plus-thalassemia 1992-06-01 no assertion criteria provided literature only

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