ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV001125738 SCV000926115 likely pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Illumina Laboratory Services, Illumina RCV001125738 SCV001284840 uncertain significance Renal cysts and diabetes syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001248885 SCV001422565 uncertain significance Maturity onset diabetes mellitus in young 2020-01-22 criteria provided, single submitter curation The p.Val173Ile variant in HNF1B has been reported in 1 French individual with MODY (PMID: 22432796), and has been identified in 0.008% (3/35440) of Latino chromosomes and 0.003% (1/30616) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs925595786). Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PP3 (Richards 2015).

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