ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1370C>T (p.Pro457Leu)

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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 RCV004577233 SCV005061154 uncertain significance Renal cysts and diabetes syndrome criteria provided, single submitter clinical testing The observed missense c.1370C>T(p.Pro457Leu) variant in HNF1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro457Leu variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. The amino acid change p.Pro457Leu in HNF1B is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 457 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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