ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.271G>A (p.Glu91Lys)

dbSNP: rs33913712
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756232 SCV000883978 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222351 SCV002500601 uncertain significance not specified 2024-05-15 criteria provided, single submitter clinical testing Variant summary: HBB c.271G>A (p.Glu91Lys) results in a conservative amino acid change located in the Globin 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 251422 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. 271G>A has been reported in the literature in individuals without clear phenotype related to Hemoglobinopathy (examples: Paleari_1994, Panyasai_2016, Nadkarni_2018 , Yamane_2019, Luo_2004). These reports do not provide unequivocal conclusions about association of the variant with Hemoglobinopathy. The following publications have been ascertained in the context of this evaluation (PMID: 15543018, 7852091, 9785927, 31139532, 26864977, 30489691). ClinVar contains an entry for this variant (Variation ID: 15091). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000016244 SCV000036512 other HEMOGLOBIN AGENOGI 2017-12-12 no assertion criteria provided literature only
Natera, Inc. RCV001835627 SCV002089203 uncertain significance beta Thalassemia 2020-08-11 no assertion criteria provided clinical testing

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