ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) (rs33982568)

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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 RCV001078304 SCV001360656 pathogenic beta Thalassemia 2019-07-31 criteria provided, single submitter clinical testing Variant summary: HBB c.108C>A (p.Tyr36X) 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. The variant was absent in 251358 control chromosomes (gnomAD). The variant, c.108C>A, has been reported in the literature in multiple individuals (including one homozygote) affected with Beta Thalassemia (Fucharoen_1989, Thein_1990, Ohba_1997, Hoppe_2013, Girard_2016). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000016662 SCV000036931 pathogenic beta^0^ Thalassemia 1989-05-15 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078304 SCV001244467 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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