ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2320C>T (p.Arg774Trp)

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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 RCV003340755 SCV004047451 uncertain significance Platelet-type bleeding disorder 16 criteria provided, single submitter clinical testing The missense variant c.2320C>T (p.Arg774Trp) in ITGA2B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg774Trp variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.00003182% is reported in gnomAD. The amino acid Arg at position 774 is changed to a Trp changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg774Trp in ITGA2B is predicted as conserved by PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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