ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2671T>C (p.Tyr891His)

gnomAD frequency: 0.00007  dbSNP: rs757344529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332810 SCV001525232 uncertain significance Combined immunodeficiency due to LRBA deficiency 2019-07-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332810 SCV002284755 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 891 of the LRBA protein (p.Tyr891His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs757344529, ExAC 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: 1031075). 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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