ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.*115A>C

dbSNP: rs1554917417
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Total submissions: 1
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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 RCV000586987 SCV000697066 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing Variant summary: The c.*115A>C variant affects a moderately conserved nucleotide, resulting in 3-prime UTR change. The variant is located within the known polyA tail, thus it is expected to alter mRNA expression. Other changes at polyA tail, such as c.*110T>C and c.*110_*111delTA, have been evaluated as pathogenic/likely pathogenic by our lab. This variant is not found in approximately 121150 control chromosomes from the broad and large populations of ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories, nor evaluated for functional impact by in vivo/vitro studies. Due to the lack of clinical information and functional studies, the variant has currently been classified as a Variant of Uncertain Significance until more information becomes available.

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