Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000820843 | SCV000961574 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 2251 of the LRBA protein (p.Thr2251Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs202061746, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002537479 | SCV003551733 | uncertain significance | Inborn genetic diseases | 2022-03-28 | criteria provided, single submitter | clinical testing | The c.6751A>G (p.T2251A) alteration is located in exon 45 (coding exon 44) of the LRBA gene. This alteration results from a A to G substitution at nucleotide position 6751, causing the threonine (T) at amino acid position 2251 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |