ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787256 SCV000926186 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Broad Institute Rare Disease Group,Broad Institute RCV001248883 SCV001422563 uncertain significance Maturity onset diabetes mellitus in young 2020-01-22 no assertion criteria provided curation The p.Ser36Phe variant in HNF1B has been reported in 3 Japanese individuals with MODY (PMID: 11845238), and has been identified in 0.2% (36/19922) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs544890850). This variant has been seen in the general population at a frequency high enough to rule out a pathogenic role. In vitro functional studies provide some evidence that the p.Ser36Phe variant may slightly impact protein function (PMID: 11845238). However, these types of assays may not accurately represent biological function. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser36Phe variant is uncertain. ACMG/AMP Criteria applied: BA1, PS3_supporting (Richards 2015).

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