ClinVar Miner

Submissions for variant NM_003749.3(IRS2):c.3028G>A (p.Ala1010Thr)

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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 RCV004785935 SCV005401077 uncertain significance Type 2 diabetes mellitus 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.3028G>A(p.Ala1010Thr) variant in IRS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.01% in the gnomAD Exomes. The amino acid Ala at position 1010 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala1010Thr in IRS2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (Polyphen - Possibly damaging, SIFT - Tolerated, and MutationTaster - Polymorphism automatic) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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