ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.206T>C (p.Leu69Pro)

dbSNP: rs33972593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447476 SCV004175458 likely pathogenic Atypical hemolytic-uremic syndrome 2022-09-12 criteria provided, single submitter clinical testing The HBB c.206T>C variant is a single nucleotide change in exon 2/3 of the HBB gene, which is predicted to change the amino acid leucine at position 69 in the protein to proline. The variant, named 'Hb Mizuho' (PMID:893142), has been reported in unrelated patients with a clinical presentation of haemolytic anaemia and splenomegaly (PMID:893142; 33590291; 2272836; 1726094; 25572187) (PS4). This variant is absent from population databases (PM2). Computational predictions support a deleterious effect on the gene or gene product (PP3). The variant has been reported in dbSNP (rs33972593) and in the HGMD database: CM910205.
OMIM RCV000016497 SCV000036765 other HEMOGLOBIN MIZUHO 2017-12-12 no assertion criteria provided literature only

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