ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.68_74del (p.Glu23fs)

dbSNP: rs281864898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003558658 SCV004294109 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu23Valfs*37) in the HBB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HBB are known to be pathogenic (PMID: 23637309). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive beta-thalassemia (PMID: 21232998). ClinVar contains an entry for this variant (Variation ID: 869360). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001078432 SCV004803493 pathogenic beta Thalassemia 2024-01-17 criteria provided, single submitter clinical testing Variant summary: HBB c.68_74delAAGTTGG (p.Glu23ValfsX37) results in a premature termination codon and is predicted to cause absence of the protein due to nonsense mediated decay, a commonly known mechanism for disease. The variant was absent in 251294 control chromosomes (gnomAD). c.68_74delAAGTTGG has been reported in the literature in individuals affected with Beta Thalassemia (e.g. Neishabury_2011). These data indicate that the variant is very likely associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 21232998). ClinVar contains an entry for this variant (Variation ID: 869360). Based on the evidence outlined above, the variant was classified as pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078432 SCV001244651 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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