ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.349A>G (p.Ile117Val)

gnomAD frequency: 0.00010  dbSNP: rs138267366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690119 SCV000817797 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-03-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 117 of the LRBA protein (p.Ile117Val). This variant is present in population databases (rs138267366, gnomAD 0.01%). 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: 569484). 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 RCV002544866 SCV003711588 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.349A>G (p.I117V) alteration is located in exon 3 (coding exon 2) of the LRBA gene. This alteration results from a A to G substitution at nucleotide position 349, causing the isoleucine (I) at amino acid position 117 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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