ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-128G>C

dbSNP: rs1291160651
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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 RCV000588496 SCV000697110 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing Variant summary: The HBB c.316-128G>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict that this variant may slightly strengthen a cryptic 3' splice acceptor site. However, these predictions have yet to be confirmed by functional studies. ExAC, ESP and 1000G do not have sequencing coverage for this variant. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. At least one variant in this region, c.316-106C>G, has been classified as pathogenic (Labcorp and other reputable sources). Taken together, this variant is classified as VUS.
Invitae RCV000588496 SCV003310050 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing

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