ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.176del (p.Pro59fs)

dbSNP: rs35395625
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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 RCV000780313 SCV000917480 likely pathogenic Hemoglobinopathy 2017-11-01 criteria provided, single submitter clinical testing Variant summary: The HBB c.176delC (p.Pro59LeufsX3) variant results in a premature termination codon, predicted to cause a truncated or absent HBB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.217dupA, p.Ser73fsX2; c.230delC, p.Ala77fsX13; c.251delG, p.Gly84fsX6). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 246206 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. The variant has not been reported by reputable clinical labs. Taken together, this variant is classified as likely pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284632 SCV001470519 likely pathogenic not provided 2019-10-29 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.
Natera, Inc. RCV001825527 SCV002089217 likely pathogenic beta Thalassemia 2020-09-01 no assertion criteria provided clinical testing

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