ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.590A>G (p.Tyr197Cys)

dbSNP: rs2143486113
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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 RCV001823597 SCV002073163 uncertain significance Platelet-type bleeding disorder 16 criteria provided, single submitter clinical testing The missense variant p.Y197C in ITGA2B (NM_000419.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Y197C variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The insilico prediction of the variant is damaging by SIFT. The gene ITGA2B contains 33 pathogenic missense variants, indicating that missense variants are a common mechanism of disease in this gene. 2 variants within 6 amino acid positions of the variant p.Y197C have been shown to be pathogenic, while none have been shown to be benign. For these reasons, this variant has been classified as Uncertain Significance.

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