ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.69del (p.Glu24fs)

gnomAD frequency: 0.00006  dbSNP: rs1270810159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507788 SCV000601222 pathogenic not provided 2021-01-13 criteria provided, single submitter clinical testing This variant causes the premature termination of HBA2 protein synthesis, and has been reported in heterozygous carriers with mild microcytic anemia in the published literature (PMIDs: 16512835 (2006) and 17486494 (2007)). Functional studies showed that this variant does not affect RNA splicing, but the mRNA transcript is subject to nonsense-mediated decay (PMID: 16512835 (2006)). Therefore, the variant is classified as pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507788 SCV002048279 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing The HBA2 c.69delC; p.Glu24SerfsTer26 variant (rs1270810159), also known as codon 22 (-C), is reported in the literature in the heterozygous state in individuals with microcytic and hypochromic anemia (Luo 2007, Pereira 2006). This variant is also reported in ClinVar (Variation ID: 439123). This variant is found in the general population with an overall allele frequency of 0.006% (3/53510 alleles) in the Genome Aggregation Database. This variant causes a frameshift by deleting a single nucleotide, and has been shown to result in a truncated mRNA subject to nonsense-mediated decay (Pereira 2006). Based on available information, this variant is considered to be pathogenic. References: Luo HY et al. Two new alpha-thalassemia frameshift mutations. Hemoglobin. 2007;31(2):135-9. PMID: 17486494. Pereira FJ et al. Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22. Br J Haematol. 2006 Apr;133(1):98-102. PMID: 16512835.
Natera, Inc. RCV001027962 SCV001190709 pathogenic alpha Thalassemia 2019-05-20 no assertion criteria provided clinical testing

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