Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001281733 | SCV000601239 | uncertain significance | not provided | 2020-02-09 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001281733 | SCV000883984 | uncertain significance | not provided | 2023-11-20 | criteria provided, single submitter | clinical testing | The Hb Austin variant (HBB: c.123G>T; p.Arg41Ser, also known as Arg40Ser when numbered from the mature protein, rs33918778, HbVar ID: 311) is reported in the literature in the heterozygous state in multiple individuals of Mexican ancestry with no clinical symptoms (HbVar and references therein, Racsa 2014, Moo-Penn 1977). However, the phenotype of this variant in the presence of other alpha globin variants is unknown. Functional characterization indicate that the variant hemoglobin has normal Bohr effect, increased oxygen affinity, reduced cooperativity, and found to dissociate into oxyHb dimers (HbVar and references therein). The c.123G>T variant is reported in ClinVar (Variation ID: 439134). It is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.9). Due to the limited information regarding this variant, its clinical significance is uncertain at this time. References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html Racsa LD et al. Beta-Globin gene sequencing of hemoglobin Austin revises the historically reported electrophoretic migration pattern. Arch Pathol Lab Med. 2014 Jun;138(6):819-22. PMID: 24878022. Moo-Penn WF et al. Hemoglobins Austin and Waco: two hemoglobins with substitutions in the alpha 1 beta 2 contact region. Arch Biochem Biophys. 1977 Feb;179(1):86-94. doi: 10.1016/0003-9861(77)90089-3. PMID: 14597. |
Fulgent Genetics, |
RCV002490848 | SCV002780466 | uncertain significance | Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; Methemoglobinemia, beta-globin type; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB | 2021-12-28 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272128 | SCV001453781 | uncertain significance | beta Thalassemia | 2020-09-16 | no assertion criteria provided | clinical testing |