ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.*47C>T

dbSNP: rs1158183534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264427 SCV001442567 uncertain significance not specified 2020-10-20 criteria provided, single submitter clinical testing Variant summary: HBB c.*47C>T is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 4e-06 in 251122 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.*47C>T in individuals affected with Hemoglobinopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. In the HGMD and ithanet databases, there is another nucleotide change noted in the same position (c.*47C>G). Based on the evidence outlined above, the variant was classified as uncertain significance.

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