ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)

dbSNP: rs2147545592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823459 SCV002072906 uncertain significance Renal cysts and diabetes syndrome criteria provided, single submitter clinical testing The missense variant p.L286P in HNF1B (NM_000458.4) has not be reported previously as a pathogenic or a benign variant to the best of our knowledge.Another missense mutation affecting the same amino acid L286V has been previously reported to be disease causing (Alvelos et al). The p.L286P variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.L286P missense variant is predicted to be damaging by both SIFT and PolyPhen2. The leucine residue at codon 286 of HNF1B is conserved in all mammalian species. The nucleotide c.857 in HNF1B is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance
Yale Center for Mendelian Genomics, Yale University RCV001823459 SCV002106572 likely pathogenic Renal cysts and diabetes syndrome 2019-01-17 no assertion criteria provided literature only

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