Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
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. |