ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.223G>A (p.Asp75Asn)

dbSNP: rs28928875
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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 RCV001800308 SCV002047326 uncertain significance not provided 2021-01-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586014 SCV005076698 uncertain significance not specified 2024-04-11 criteria provided, single submitter clinical testing Variant summary: HBA1 c.223G>A (p.Asp75Asn) 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 140444 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.223G>A has been reported in the literature (Mamalaki_1990, Kimura_2015). These report(s) do 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 publications have been ascertained in the context of this evaluation (PMID: 25818820, 2227935). ClinVar contains an entry for this variant (Variation ID: 15732). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000017027 SCV000037299 other HEMOGLOBIN G (PEST) 1990-10-01 no assertion criteria provided literature only

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