ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)

gnomAD frequency: 0.00002  dbSNP: rs764483607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001248944 SCV001422723 uncertain significance Maturity-onset diabetes of the young type 3 2020-01-22 criteria provided, single submitter curation The p.Pro467Leu variant in HNF1A has been reported in 2 individuals with MODY (PMID: 18003757), but has been identified in 0.0087% 3/34496) of Latino chromosomes and 0.00089% (1/112804) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs764483607). 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.Pro467Leu variant is uncertain. ACMG/AMP Criteria applied: BS1, PS4_supporting (Richards 2015).
Fulgent Genetics, Fulgent Genetics RCV002491852 SCV002793212 uncertain significance Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 2022-04-27 criteria provided, single submitter clinical testing

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