ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-10A>G

dbSNP: rs747545656
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759789 SCV000889358 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing The HBB c.-10A>G variant has not been reported in the published literature. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175410 SCV001338949 uncertain significance not specified 2020-03-31 criteria provided, single submitter clinical testing Variant summary: HBB c.-10A>G is located in the untranslated mRNA region upstream of the initiation codon. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2e-05 in 251052 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-10A>G in individuals affected with Beta Thalassemia and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001825504 SCV002091627 uncertain significance beta Thalassemia 2020-05-18 no assertion criteria provided clinical testing

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