Submissions for variant NM_000545.8(HNF1A):c.-4A>G

gnomAD frequency: 0.00001  dbSNP: rs561269721

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000517679	SCV000613617	benign	not specified	2017-08-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001111696	SCV001269272	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002341209	SCV002640494	likely benign	Maturity onset diabetes mellitus in young	2017-09-18	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316663	SCV004015765	benign	Nonpapillary renal cell carcinoma	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003392347	SCV004132113	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	HNF1A: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000517679	SCV005394869	benign	not specified	2024-09-23	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002341209	SCV002605534	likely risk allele	Maturity onset diabetes mellitus in young		flagged submission	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 rs561269721 with MODY3.