ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.751G>A (p.Ala251Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004590746 SCV005079212 pathogenic not provided 2023-06-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12453420, 18003757, 32001615, 23274891, 29666556, 34440499, 30455330)
PreventionGenetics, part of Exact Sciences RCV004731663 SCV005337672 likely pathogenic HNF1A-related disorder 2024-09-25 no assertion criteria provided clinical testing The HNF1A c.751G>A variant is predicted to result in the amino acid substitution p.Ala251Thr. This variant has been reported in the heterozygous state in multiple individuals with maturity-onset diabetes of the young (MODY) (Thanabalasingham et al. 2013. PubMed ID: 23274891; Pavić et al. 2018. PubMed ID: 29666556). In another study, the variant was reported in the homozygous state in an individuals with young-onset diabetes (teen years), and the heterozygous parents had adult-onset symptoms (Misra et al. 2020. PubMed ID: 32001615). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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