Submissions for variant NM_000545.8(HNF1A):c.1107+9C>G

gnomAD frequency: 0.00081  dbSNP: rs17847497

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030475	SCV000053145	likely benign	Maturity-onset diabetes of the young type 3	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000030475	SCV000376716	benign	Maturity-onset diabetes of the young type 3	2018-01-13	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.
Invitae	RCV000861724	SCV001002116	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV001289314	SCV001477046	benign	not specified	2019-10-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000861724	SCV001789248	likely benign	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001289314	SCV002065027	benign	not specified	2020-07-08	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002464078	SCV002605477	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 rs17847497 with MODY3.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000861724	SCV003799260	benign	not provided	2022-03-09	criteria provided, single submitter	clinical testing