Submissions for variant NM_000545.8(HNF1A):c.864G>C (p.Gly288=)

gnomAD frequency: 0.25042  dbSNP: rs56348580

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117234	SCV000151407	benign	not specified	2013-02-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000117234	SCV000168823	benign	not specified	2013-11-19	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.
Eurofins Ntd Llc (ga)	RCV000117234	SCV000230121	benign	not specified	2015-01-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117234	SCV000305109	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000331151	SCV000376714	benign	Maturity-onset diabetes of the young type 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics	RCV000117234	SCV000613635	benign	not specified	2017-07-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517092	SCV001725506	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226671	SCV002505646	uncertain significance	Type 2 diabetes mellitus		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. HNF1A gene is associated with glucosuria and response to sulfonylureas. However, the role of rs56348580 in the predisposition to diabetes remains unclear.
Ambry Genetics	RCV002444570	SCV002682517	benign	Maturity onset diabetes mellitus in young	2015-03-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315674	SCV004015753	benign	Nonpapillary renal cell carcinoma	2023-07-07	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000117234	SCV001740003	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000117234	SCV001926353	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000117234	SCV002036654	benign	not specified		no assertion criteria provided	clinical testing