ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.51del (p.Lys18fs) (rs35662066)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724162 SCV000885547 pathogenic not provided 2017-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000173145 SCV000677928 pathogenic beta Thalassemia 2017-06-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724162 SCV000224234 pathogenic not provided 2015-02-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590756 SCV000697137 pathogenic Hemoglobinopathy 2016-10-31 criteria provided, single submitter clinical testing Variant summary: The HBB c.51delC (p.Lys18Argfs) 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.85dupC, c.135delC). Mutation taster predicts a damaging outcome for this variant. This variant was found in 4/121395 control chromosomes at a frequency of 0.000033, which does not exceed the estimated maximal expected allele frequency of a pathogenic HBB variant (0.0111803). It was reported in several BTHAL patients some of whom were homologous for the variant indicating causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000016670 SCV000036940 pathogenic beta^0^ Thalassemia 2017-02-27 no assertion criteria provided literature only

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