ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)

dbSNP: rs33987053
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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 RCV002227314 SCV002506149 likely benign not provided 2021-12-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388105 SCV004100236 uncertain significance not specified 2023-09-28 criteria provided, single submitter clinical testing Variant summary: HBA2 c.349G>A (p.Glu117Lys) results in a conservative amino acid change located in the Globin (IPR000971) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 247268 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.349G>A has been reported in the literature in individuals affected with Thalassemia (Eftekhari_2018). This report does not provide unequivocal conclusions about association of the variant with Alpha Thalassemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 29651217). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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