ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.143dup (p.Asp48fs) (rs35894115)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000016744 SCV000697083 pathogenic beta Thalassemia 2017-05-08 criteria provided, single submitter clinical testing Variant summary: The HBB c.143dupA (p.Asp48Glufs) 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. c.143_146dupATCT/p.Thr51fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121384 control chromosomes. However, it has been reported homozygously in multiple affected individuals with BTHAL-MJR. In addition, multiple reputable databases listed this variant as pathogenic. Moreover, variants involving the same and nearby neucleotides have been reported in affected individuals such as variants c.143A>T, c.143_146dupATCT, c.146T>G, and c.146T>C, suggesting the functional importance of this chromosomal region. Taken together, this variant is classified as pathogenic.
OMIM RCV000016744 SCV000037014 pathogenic beta Thalassemia 1990-01-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505977 SCV000601249 pathogenic not provided 2017-06-17 criteria provided, single submitter clinical testing

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