ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3748G>C (p.Ala1250Pro)

gnomAD frequency: 0.00003  dbSNP: rs146423687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689598 SCV000817256 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1250 of the LRBA protein (p.Ala1250Pro). This variant is present in population databases (rs146423687, gnomAD 0.008%). 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: 569064). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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