ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs)

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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 RCV003337900 SCV004048316 likely pathogenic Glanzmann thrombasthenia 2 criteria provided, single submitter clinical testing The frameshift deletion p.Leu599HisfsTer3 in ITGB3 (NM_000212.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu599HisfsTer3 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation caused a frameshift mutation. The p.Leu599HisfsTer3 variant is a loss of function variant in the gene ITGB3, which is intolerant of Loss of Function variants. For these reasons, this variant has been classified as Likely Pathogenic.

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