ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.287dupA (p.Leu97Alafs) (rs34937014)

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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 RCV000029975 SCV000052630 pathogenic beta Thalassemia 2018-08-14 criteria provided, single submitter clinical testing Variant summary: HBB c.287dupA (p.Leu97AlafsX6) 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 (eg. c.323dupG/p.Asn109fsX32). The variant was absent in 277156 control chromosomes (gnomAD). c.287dupA has been reported in the literature in multiple individuals affected with Beta Thalassemia Major (Winichagoon_1992, Cai_1996, Doro_2017). 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. A ClinVar submission from another clinical diagnostic laboratory (evaluation after 2014) cite the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507093 SCV000601267 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing

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