ClinVar Miner

Submissions for variant NC_000012.12:g.120978511A>G

gnomAD frequency: 0.00015  dbSNP: rs756136537
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Monogenic Diabetes Variant Curation Expert Panel RCV001843397 SCV002102527 uncertain significance Monogenic diabetes 2024-01-18 reviewed by expert panel curation The c.-258A>G variant in the HNF1 homeobox A gene, HNF1A, is located in the promoter of NM_000545.8. This variant is located in the promoter of NM_000545.8. This variant is located at the HNF1A binding site (c.-238 to c.-259) of HNF1A, which is defined as critical for the protein’s function by the ClinGen MDEP (PM1_Supporting). Additionally, this variant was identified in an individual with a clinical history highly specific for HNF1A-MODY (MODY probability calculator result >50%, negative genetic testing for HNF4A) (PP4; internal lab contributor). In summary, c.-258A>G meets the criteria to be classified as a variant of uncertain significance for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 2.1.0, approved 8/11/2023): PM1_Supporting, PP4.
Fulgent Genetics, Fulgent Genetics RCV002482386 SCV002783164 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 2022-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545231 SCV003471765 benign not provided 2024-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002545231 SCV005042043 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing

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