ClinVar Miner

Submissions for variant NM_000558.3(HBA1):c.193G>C (p.Asp65His)

gnomAD frequency: 0.00004  dbSNP: rs33984024
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985707 SCV001134180 uncertain significance not provided 2021-06-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000985707 SCV001160105 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing The Hb Q-India variant (HBA1: c.193G>C; p.Asp65His, also known as Asp64His when numbered from the mature protein, rs33984024) is reported in the literature in several families with beta-thalassemia major and minor, but did not alter the beta-thalassemia phenotype (see link to HbVar and references therein, Bhat 2010). It has been described as a stable hemoglobin variant (Molchanova 1994) and did not alter the phenotype in patients with HbS (Parab 2015). One study suggests that some individuals heterozygous for Hb Q-India exhibit microcytosis and anemia (Panigrahi 2005), though the clinical presentations are highly variable even within a family. This variant is reported in ClinVar (Variation ID: 15803). This variant is found in the South Asian population with an allele frequency of 0.004% (6/135032 alleles) in the Genome Aggregation Database. The aspartic acid at codon 65 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.663). However, due to the variable clinical phenotypes associated with Hb Q-India, its clinical significance cannot be determined with certainty. References: Link to HbVar database for Hb Q-India: Bhat V et al. Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-ß-thalassemia. Indian J Clin Biochem. 2010 25(1):99-104. PMID: 23105893. Molchanova T et al. The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes. Br J Haematol. 1994 88(2):300-6. PMID: 7803274. Panigrahi I et al. Hb Q India: is it always benign? Am J Hematol. 2005 78(3):245-6. PMID: 15726591. Parab S et al. Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India. Clin Chim Acta. 2015 442:33-5. PMID: 25576799.
OMIM RCV000017144 SCV000037416 other HEMOGLOBIN Q (INDIA) 2016-07-20 no assertion criteria provided literature only
Natera, Inc. RCV001275686 SCV001461046 uncertain significance alpha Thalassemia 2020-09-16 no assertion criteria provided clinical testing

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