Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 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, |
RCV002222351 | SCV002500601 | uncertain significance | not specified | 2023-01-16 | 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. c.271G>A has been reported in the literature in individuals without clear phenotype related to Hemoglobinopathy in heterozygous state. These reports do not provide unequivocal conclusions about association of the variant with Hemoglobinopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance or other. 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, |
RCV001835627 | SCV002089203 | uncertain significance | beta Thalassemia | 2020-08-11 | no assertion criteria provided | clinical testing |