ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-19T>A (rs191535077)

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Total submissions: 4
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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 RCV001293423 SCV000697114 uncertain significance not specified 2021-02-02 criteria provided, single submitter clinical testing Variant summary: HBB c.316-19T>A alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 0.00022 in 250808 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in HBB causing Hemoglobinopathy (0.00022 vs 0.011), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.316-19T>A in individuals affected with Hemoglobinopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Two classified as likely benign while one classified as VUS. Based on the evidence outlined above, the variant was classified as uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590215 SCV000888151 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing
Invitae RCV000590215 SCV001019055 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289691 SCV001477666 likely benign none provided 2019-10-22 criteria provided, single submitter clinical testing

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