Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800311 | SCV002047239 | uncertain significance | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004586015 | SCV005077553 | uncertain significance | not specified | 2024-04-03 | criteria provided, single submitter | clinical testing | Variant summary: HBA1 c.205A>G (p.Asn69Asp) results in a conservative amino acid change located in the Globin domain (IPR000971) of the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 136744 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.205A>G (also known as Ube 2) has been reported in the literature as in multiple individuals without evidence of cosegregation with disease (e.g. Miyaji_1967, Bilginer_1984, Shin_2002, Lou_2014). These reports do not provide unequivocal conclusions about association of the variant with Alpha Thalassemia. At least one publication reports experimental evidence evaluating an impact on protein function, finding no effect of the variant on oxygen affinity, Bohr effect, or heme heme interaction (Imai_1970). The following publications have been ascertained in the context of this evaluation (PMID: 6035181, 6469696, 5416123, 11939522, 24985555). ClinVar contains an entry for this variant (Variation ID: 15831). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| OMIM | RCV000017176 | SCV000037448 | other | HEMOGLOBIN UBE-2 | 2016-07-20 | no assertion criteria provided | literature only |