ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4200A>G (p.Ile1400Met)

gnomAD frequency: 0.00001  dbSNP: rs1560909790
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707601 SCV000836702 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-12-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1400 of the LRBA protein (p.Ile1400Met). This variant is not present in population databases (gnomAD no frequency). 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: 583301). 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.

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