ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.157G>A (p.Asp53Asn) (rs33961886)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000016537 SCV000601250 uncertain significance not specified 2017-06-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283287 SCV000603930 benign none provided 2020-07-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000016537 SCV000697088 likely benign not specified 2021-03-14 criteria provided, single submitter clinical testing Variant summary: HBB c.157G>A (p.Asp53Asn) also known as Haemoglobin Osu-Christiansborg results in a conservative amino acid change located in the Globin domain (IPR000971) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251440 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.157G>A has been reported in the literature and regognized by many reports as a non-pathological beta-gene mutant (example, Konotey-Ahulu_1971, Rodrigues Souza_2004, van Zwwieten_2014). It migrates identically to HbS on haemoglobin electrophoresis. It was observed in apparently unaffected individuals in the heterozygous state or in compound heterozygosity with HbS or HbC with normal hematological findings and hemoglobin pattern suitable to their carrier status, respectively. Based on Kapoor et al (2005), this variant may cause a falsely elevated level of HbA1c. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (benign, n=3; likely benign, n=1, VUS, n=1). Based on the lack of conclusive evidence reporting this variant homozygously or in trans with other b+-thal or b0-thal variants as evidence outlined above, the variant was classified as likely benign for Hemoglobinopathy.
Mendelics RCV000029964 SCV001138218 benign beta Thalassemia 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000016537 SCV000036805 benign not specified 2017-12-12 no assertion criteria provided literature only
Natera, Inc. RCV000029964 SCV001462665 likely benign beta Thalassemia 2017-09-16 no assertion criteria provided clinical testing

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