ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2561dup (p.Leu855fs)

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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 RCV003340824 SCV004047581 likely pathogenic Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing The frameshift duplication p.L855Pfs*68 in ITGA2B (NM_000419.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation caused a frameshift mutation. The frame shifted sequence continues 68 residues until a stop codon is reached. The p.L855Pfs*68 variant is a loss of function variant in the gene ITGA2B, which is intolerant of Loss of Function variants. For these reasons, this variant has been classified as Likely Pathogenic.

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