ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.45dup (p.Trp16fs) (rs35383398)

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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 RCV000780312 SCV000917479 pathogenic Hemoglobinopathy 2018-05-04 criteria provided, single submitter clinical testing Variant summary: HBB c.45dupG (p.Trp16ValfsX8) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., p.Lys18fsX2 and p.Glu27X). The variant allele was found at a frequency of 4.1e-06 in 245968 control chromosomes. c.45dupG has been reported in the literature in multiple individuals affected with Beta Thalassemia and is referred to in the literature as a common Chinese mutation (Chan_1988, Lin_2014). 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 RCV000016683 SCV000036953 pathogenic beta^0^ Thalassemia 1988-10-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078383 SCV001244581 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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