ClinVar Miner

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

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Total submissions: 5
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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 RCV000016537 SCV000603930 benign not specified 2018-12-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589637 SCV000697088 likely benign not provided 2016-05-13 criteria provided, single submitter clinical testing Variant summary: Haemoglobin Osu-Christiansborg is regognized by many clinicians as a non-pathological b-gene mutant in which aspartate at position 53 of the b-chain is substituted for asparagine. 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 high level of HbA1C. 4/4 insilico tools predict a benign outcome. The variant was not found in 121394 chrs (ExAC) confirming that this is a very rare functional polymorphism. OMIM classifies this variant as Benign based upon a recent evaluation performed within the past 2 years of this classification event. Due to the lack of the published data reporting this variant homozygously or in trans with b+-thal or b0-thal variants in unaffected carriers, the variant has been 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

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