ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.92G>C (p.Arg31Thr) (rs33960103)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507793 SCV000603906 pathogenic not specified 2017-01-17 criteria provided, single submitter clinical testing
Counsyl RCV000016432 SCV000221083 pathogenic beta Thalassemia 2015-01-26 criteria provided, single submitter literature only
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000016432 SCV000746426 pathogenic beta Thalassemia 2017-12-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030007 SCV000052662 pathogenic Beta thalassemia major 2015-04-03 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000016432 SCV000697157 pathogenic beta Thalassemia 2016-07-18 criteria provided, single submitter clinical testing Variant summary: The HBB c.92G>C (p.Arg31Thr) variant involves the alteration of a conserved nucleotide located adjacent to the splice donor site in intron 1 (located in the last nucleotide of exon 1). 5/5 in silico tools predict a damaging outcome for this variant along with 5/5 splice site tools predicting the variant to inhibit the utilization of the normal splice site in intron 1. These predictions have been confirmed by functional studies demonstrating the variant to virtually abolish (98% inhibition) the utilization of the normal 5' splice site in intron 1.This variant was found in 11/121334 control chromosomes at a frequency of 0.0000907, which does not exceed the estimated maximal expected allele frequency of a pathogenic HBB variant (0.0111803). It was observed in several b-thalassemia patients in either homozygosity or in compound heterozygosity with other pathogenic variants, indicating pathogenicity. In addition, multiple clinical diagnostic laboratories and reputable databases classified this variant as Pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000016432 SCV000036700 pathogenic beta Thalassemia 1989-02-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506942 SCV000601333 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing

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