ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)

gnomAD frequency: 0.00001  dbSNP: rs774996577
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Total submissions: 5
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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 RCV001248949 SCV001422728 uncertain significance Maturity-onset diabetes of the young type 3 2020-01-22 criteria provided, single submitter curation The p.Arg114Cys variant in HNF1A has not been previously reported in individuals with maturity-onset diabetes of the young and has been identified in 0.01% (3/30610) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs774996577). 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, the clinical significance of the p.Arg114Cys variant is uncertain. ACMG/AMP Criteria applied: BS1, PP3 (Richards 2015).
Molecular Genetics, Madras Diabetes Research Foundation RCV002051926 SCV002318386 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002051926 SCV002758781 likely risk allele Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs774996577 with MODY3.
GeneDx RCV004797916 SCV005419917 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing Reported in an individual with suspected MODY in published literature (PMID: 19336507); detailed clinical and segregation information not provided; Published functional studies demonstrate impaired DNA binding but do not significantly impact transcription, expression, or nuclear localization (PMID: 26853433, 32910913); further studies are necessary to elucidate the role of the variant; Located in the critical DNA binding domain (PMID: 12453420, 18003757); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26853433, 12453420, 18003757, 32910913, 23348805, 19336507)
Fulgent Genetics, Fulgent Genetics RCV005005125 SCV005632351 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 2024-06-03 criteria provided, single submitter clinical testing

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