ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.92+2T>C (rs33956879)

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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 RCV000030003 SCV000052658 pathogenic beta Thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Invitae RCV000506748 SCV000961460 pathogenic not provided 2018-09-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the HBB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed to be homozygous or in combination with another HBB variant in individuals affected with beta thalassemia (PMID: 24986053, 28391758, 28366028, 2200760). ClinVar contains an entry for this variant (Variation ID: 36334). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HBB are known to be pathogenic (PMID: 23637309). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506748 SCV000601327 pathogenic not provided 2017-06-14 criteria provided, single submitter clinical testing

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