ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2112G>A (p.Met704Ile)

gnomAD frequency: 0.00041  dbSNP: rs114786941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040187 SCV001203748 uncertain significance Combined immunodeficiency due to LRBA deficiency 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 704 of the LRBA protein (p.Met704Ile). This variant is present in population databases (rs114786941, gnomAD 0.2%). 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: 838605). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LRBA protein function. 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 RCV002551463 SCV003687819 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.2112G>A (p.M704I) alteration is located in exon 17 (coding exon 16) of the LRBA gene. This alteration results from a G to A substitution at nucleotide position 2112, causing the methionine (M) at amino acid position 704 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003442153 SCV004170046 uncertain significance not provided 2023-05-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV003442153 SCV004227035 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing BP4

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