Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729903 | SCV000857601 | uncertain significance | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000798035 | SCV000937628 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 458 of the LRBA protein (p.Val458Ile). This variant is present in population databases (rs765483951, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 594579). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV003165965 | SCV003865861 | uncertain significance | Inborn genetic diseases | 2023-01-11 | criteria provided, single submitter | clinical testing | The c.1372G>A (p.V458I) alteration is located in exon 11 (coding exon 10) of the LRBA gene. This alteration results from a G to A substitution at nucleotide position 1372, causing the valine (V) at amino acid position 458 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |