ClinVar

Description

The ANK1 c.2803C>T; p.Arg935Ter variant is reported in the literature in multiple individuals with spherocytosis or hemolytic anemia (Choi 2019, Del Orbe Barreto 2016, Gao 2018, Muramatsu 2017, Tole 2020, Wang 2018). This variant is also reported in ClinVar (Variation ID: 1330761). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Choi HS et al. Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte. Orphanet J Rare Dis. 2019 May 23. PMID: 31122244 Del Orbe Barreto R et al. Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing. Int J Lab Hematol. 2016 Dec. PMID: 27427187 Gao Y et al. Diagnosis of Hereditary Spherocytosis and Secondary Hemochromatosis in a Patient with Jaundice. Acta Haematol. 2018 PMID: 29597199 Muramatsu H et al. Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Genet Med. 2017 Jul. PMID: 28102861 Tole S et al. Genotype-phenotype correlation in children with hereditary spherocytosis. Br J Haematol. 2020 Nov. PMID: 32436265 Wang R et al. Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis. Sci China Life Sci. 2018 Aug. PMID: 29572776