ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)

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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 RCV003337835 SCV004048188 likely pathogenic Leukocyte adhesion deficiency 3 criteria provided, single submitter clinical testing The stop gained variant c.393T>A (p.Tyr131Ter) in ITGB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant p.Tyr131Ter is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The nucleotide change in ITGB2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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