ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)

gnomAD frequency: 0.98610  dbSNP: rs1169305
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Monogenic Diabetes Variant Curation Expert Panel RCV002250354 SCV002520640 benign Monogenic diabetes 2022-04-18 reviewed by expert panel curation The c.1720A>G variant in the HNF1 homeobox A gene, HNF1A, causes an amino acid change of serine to glycine at codon 574 (p.(Ser574Gly)) of NM_000545.8. This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.996; however, given that the G (Gly) alternate allele has frequencies greater than or equal to95% in all subpopulations, we have recalculated the Popmax Filtering allele frequency based on the highest prevalence of the A (Ser) reference allele being found in the African/African-American subpopulation (1144/24164 = 0.0473). The newly calculated Popmax Filtering allele frequency is 0.0447, which is greater than the MDEP threshold for BA1 (greater than or equal to 0.0001) (BA1). Additionally, this variant was identified in a patient with an alternate molecular basis for disease (BP5; internal lab contributors). In summary, c.1720A>G meets the criteria to be classified as benign for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 1.1, approved 9/30/2021): BA1, BP5.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000121200 SCV000539304 benign not specified 2018-09-10 criteria provided, single submitter clinical testing This variant represents a RefSeq error. The hg19 reference base (c.1720A) is the minor allele. This allele (A) has been identified in 4.71% (1098/23336) of Afri can chromosomes in gnomAD (http://gnomad.broadinstitute.org) and thus meets crit eria to be classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001509970 SCV001716891 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000030490 SCV001933074 benign Maturity-onset diabetes of the young type 3 2021-08-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001509970 SCV002048285 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464079 SCV002605478 benign 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. Sufficient evidence is found to confer the association of this particular variant rs1169305 with MODY3.
Fulgent Genetics, Fulgent Genetics RCV002504835 SCV002795042 benign 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 2021-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001509970 SCV005234411 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030490 SCV000053160 not provided Maturity-onset diabetes of the young type 3 2011-08-18 no assertion provided clinical testing
ITMI RCV000121200 SCV000085371 not provided not specified 2013-09-19 no assertion provided reference population
Phenosystems SA RCV001775069 SCV002011874 likely pathogenic Reduced delayed hypersensitivity no assertion criteria provided clinical testing
Phenosystems SA RCV001775070 SCV002012364 likely pathogenic Symphalangism affecting the proximal phalanx of the 4th finger no assertion criteria provided clinical testing
Phenosystems SA RCV001777123 SCV002014581 likely pathogenic Breast carcinoma no assertion criteria provided clinical testing

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