Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759782 | SCV000889348 | uncertain significance | not provided | 2020-11-12 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000759782 | SCV001473499 | uncertain significance | not provided | 2023-09-22 | criteria provided, single submitter | clinical testing | The Hb Montgomery variant (HBA2: c.146T>G; p.Leu49Arg, also known as Leu48Arg when numbered from the mature protein, rs41392146, HbVar ID: 69), is reported in the literature in individuals with no associated clinical symptoms, and is considered a stable hemoglobin variant (Molchanova 1994, HbVar and references therein). However, the phenotype of this variant in the presence of other alpha globin variants is unknown. This variant is reported in ClinVar (Variation ID: 15637), but is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The leucine at codon 49 is moderately conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.754). Due to limited information, the clinical significance of the Hb Montgomery variant is uncertain at this time. References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html Molchanova T et al. The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes. Br J Haematol. 1994 88(2):300-6. PMID: 7803274. |
OMIM | RCV000016914 | SCV000037185 | other | HEMOGLOBIN MONTGOMERY | 2023-09-05 | no assertion criteria provided | literature only | |
OMIM | RCV000016915 | SCV000037186 | other | HEMOGLOBIN BIRMINGHAM (USA) | 2023-09-05 | no assertion criteria provided | literature only | |
Natera, |
RCV001826471 | SCV002093845 | uncertain significance | alpha Thalassemia | 2018-11-01 | no assertion criteria provided | clinical testing |