ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala)

gnomAD frequency: 0.00001  dbSNP: rs200935054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549328 SCV000652625 uncertain significance Combined immunodeficiency due to LRBA deficiency 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1695 of the LRBA protein (p.Val1695Ala). This variant is present in population databases (rs200935054, gnomAD 0.1%). This missense change has been observed in individual(s) with common variable immunodeficiency (PMID: 30363934). ClinVar contains an entry for this variant (Variation ID: 473179). 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) performed at Invitae indicates that this missense variant is not expected to disrupt LRBA protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000549328 SCV000897141 uncertain significance Combined immunodeficiency due to LRBA deficiency 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480683 SCV004227033 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing BP4

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