Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001811158 | SCV002049517 | uncertain significance | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | The Hb Mississippi variant (HBB: c.134C>G; p.Ser45Cys, also known as Ser44Cys when numbered from the mature protein, rs34868397) is reported to be a mildly unstable hemoglobin variant. Hb Mississippi heterozygotes are clinically and hematologically normal, however, Hb Mississippi in trans to a Beta(+)-thalassemia allele is reported to cause a thalassemia intermedia phenotype (Steinberg 1987). The Hb Mississippi variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The serine at codon 45 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.711). However, due to limited information, the clinical significance of this variant is uncertain at this time. REFERENCES HbVar link to Hb Mississippi: https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=319&.cgifields=histD Steinberg MH et al. Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia. J Clin Invest. 1987 Mar;79(3):826-32. PMID: 2434529. |
OMIM | RCV000016491 | SCV000036759 | pathogenic | not specified | 1978-01-01 | no assertion criteria provided | literature only |