ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6998C>T (p.Ser2333Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337828 SCV004048176 uncertain significance Combined immunodeficiency due to LRBA deficiency criteria provided, single submitter clinical testing The missense variant in c.7031C>T(p.Ser2344Phe) in LRBA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser2344Phe variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ser at position 2344 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. The residue is conserved across species. The amino acid change p.Ser2344Phe in LRBA is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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