Submissions for variant NM_000545.8(HNF1A):c.527-23C>T

gnomAD frequency: 0.26300  dbSNP: rs1169301

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000832815	SCV000974571	benign	not provided	2018-06-14	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.
Genome-Nilou Lab	RCV001702845	SCV001933069	benign	Maturity-onset diabetes of the young type 3	2021-08-10	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002332738	SCV002601579	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. However, more evidence is required to confer the association of this particular variant rs1169301 with MODY3.
Breakthrough Genomics, Breakthrough Genomics	RCV000832815	SCV005234401	benign	not provided		criteria provided, single submitter	not provided