ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.8010C>A (p.Asn2670Lys)

gnomAD frequency: 0.00001  dbSNP: rs1164607984
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034820 SCV001198119 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 2681 of the LRBA protein (p.Asn2681Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; 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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