ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.*56A>G (rs537944366)

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Total submissions: 3
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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 RCV000855595 SCV000697067 uncertain significance not specified 2021-02-18 criteria provided, single submitter clinical testing Variant summary: HBB c.*56A>G is located in the untranslated mRNA region downstream of the termination codon. The variant was absent in 251040 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.*56A>G in individuals affected with Hemoglobinopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000588701 SCV000883983 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing The HBB c.*56A>G variant (rs537944366) has not been reported in the medical literature but is classified as a variant of uncertain significance by one laboratory in ClinVar (Variation ID: 495968) and is observed in the African population at a frequency of 0.15% (13/8730 alleles) in the Genome Aggregation Database. The nucleotide at this position is weakly conserved and computational algorithms (PolyA Signal Miner) predict that the 3’ UTR variant has no impact on the transcript. Based on the above information, the variant is considered likely benign.
Invitae RCV000588701 SCV001090565 likely benign not provided 2020-12-06 criteria provided, single submitter clinical testing

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