ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.134C>G (p.Ser45Cys)

dbSNP: rs34868397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, 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 1974-11-01 no assertion criteria provided literature only

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