Submissions for variant NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)

gnomAD frequency: 0.02065  dbSNP: rs1800574

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117230	SCV000151403	benign	not specified	2013-03-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000117230	SCV000168822	benign	not specified	2014-05-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000117230	SCV000305105	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000391875	SCV000376710	benign	Maturity-onset diabetes of the young type 3	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445439	SCV000537086	benign	Monogenic diabetes	2019-02-01	criteria provided, single submitter	research	ACMG criteria: BA1 (overall MAF in gnomAD 3%, 6.6% in South Asian in gnomAD, ~3% in other subpop), BS2 (346 cases and 404 controls in T2DM ) [Revel score 0.597, PP3 (6), BP4 (4)= conflicting evidence, not using] [not using BP6]: benign
Eurofins Ntd Llc (ga)	RCV000117230	SCV000707747	benign	not specified	2017-04-26	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713791	SCV000844423	benign	not provided	2017-08-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000713791	SCV001726692	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226424	SCV002505383	benign	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	Mutations in this gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. Good response to sulfonylureas. However, rs1800574 localized in the DNA-binding domain of the HNF1A gene (p.Ala98Val) doesn't directly predispose to early-onset Diabetes Mellitus even if the prevalence of the variant is high.
Ambry Genetics	RCV002226424	SCV002747827	likely benign	Maturity onset diabetes mellitus in young	2018-09-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153378	SCV003843348	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315672	SCV004015761	benign	Nonpapillary renal cell carcinoma	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000713791	SCV005234392	benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000117230	SCV000085359	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000117230	SCV001798964	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000117230	SCV001929653	benign	not specified		no assertion criteria provided	clinical testing