ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.5401G>A (p.Glu1801Lys)

gnomAD frequency: 0.00001  dbSNP: rs199596976
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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 RCV001204418 SCV001375624 uncertain significance Combined immunodeficiency due to LRBA deficiency 2019-09-15 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with LRBA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1801 of the LRBA protein (p.Glu1801Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Baylor Genetics RCV001204418 SCV001525235 uncertain significance Combined immunodeficiency due to LRBA deficiency 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001204418 SCV004807778 uncertain significance Combined immunodeficiency due to LRBA deficiency 2024-03-29 criteria provided, single submitter clinical testing

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