ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-27T>G

dbSNP: rs1280140490
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Total submissions: 2
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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 RCV000781434 SCV000919453 uncertain significance not specified 2018-03-16 criteria provided, single submitter clinical testing Variant summary: HBB c.316-27T>G T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant is absent from 245422 control chromosomes (gnomAD). To our knowledge, no occurrence of c.316-27T>G 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. Based on the evidence outlined above, the variant was classified as a VUS.
Invitae RCV001481699 SCV001686047 likely benign not provided 2020-07-21 criteria provided, single submitter clinical testing

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