ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1118C>T (p.Ala373Val)

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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 RCV004585195 SCV005073948 uncertain significance Glanzmann thrombasthenia 2 criteria provided, single submitter clinical testing The observed missense variant c.1118C>T (p.Ala373Val) in ITGB3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala373Val variant is absent in gnomAD. This variant has not been submitted to the ClinVar database. The amino acid change p.Ala373Val in ITGB3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ala at position 373 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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