ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.217dup (p.Ser73fs) (rs33969853)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576855 SCV000677930 likely pathogenic beta Thalassemia 2015-07-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000576855 SCV000697094 pathogenic beta Thalassemia 2016-08-15 criteria provided, single submitter clinical testing Variant summary: The HBB c.217dupA (p.Ser73Lysfs) 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. p.Gly84fs). One in silico tool predicts a damaging outcome for this variant. Additionally, Cheng_PNAS_1984 reported the absence of beta-globin RNA in erythroid cells of a patient homozygous for this variant. The variant was reported in multiple unrelated BTHAL patients in the literature, and authors all classified the variant as pathogenic. This variant was found in 1/121394 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic HBB variant (0.0111803). Taken together, this variant is classified as pathogenic.
OMIM RCV000016675 SCV000036945 pathogenic beta^0^ Thalassemia 1984-05-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507557 SCV000601259 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing

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