Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Molecular 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 |