ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6010C>T (p.His2004Tyr)

gnomAD frequency: 0.00003  dbSNP: rs774329680
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811547 SCV000951817 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 2004 of the LRBA protein (p.His2004Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs774329680, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. 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: "Probably 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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