ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.282G>T (p.Glu94Asp)

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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 RCV004771636 SCV005382269 uncertain significance Renal cysts and diabetes syndrome 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.282G>T(p.Glu94Asp) in HNF1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is abent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - possibly damaging, SIFT - tolerated and MutationTaster - disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid change p.Glu94Asp in HNF1B is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Glu at position 94 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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