ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.544C>T (p.Gln182Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388531 SCV004100215 pathogenic Maturity onset diabetes mellitus in young 2023-09-27 criteria provided, single submitter clinical testing Variant summary: HNF1A c.544C>T (p.Gln182X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251276 control chromosomes (gnomAD). c.544C>T has been reported in the literature in individuals affected with Maturity Onset Diabetes Of The Young (e.g. Colclough_2013, Pihoker_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 23348805, 23771925). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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