Submissions for variant NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr)

dbSNP: rs1421619915

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000713787	SCV000844419	uncertain significance	not provided	2018-03-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001112244	SCV001269886	uncertain significance	Maturity-onset diabetes of the young type 3	2017-04-28	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000713787	SCV001502151	uncertain significance	not provided	2021-02-01	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002463735	SCV002605163	uncertain significance	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. However, more evidence is required to confer the association of this particular variant rs1421619915 with MODY3.