ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.281G>T (p.Cys94Phe)

gnomAD frequency: 0.00001  dbSNP: rs771839194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702343 SCV000831195 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-02-03 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 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 disease. This variant is present in population databases (rs771839194, ExAC 0.008%). This sequence change replaces cysteine with phenylalanine at codon 94 of the LRBA protein (p.Cys94Phe). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and phenylalanine.
GeneDx RCV001766541 SCV001998193 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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