Submissions for variant NM_000545.8(HNF1A):c.1740G>A (p.Pro580=)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002401401	SCV002712108	likely benign	Maturity onset diabetes mellitus in young	2022-06-02	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.
CeGaT Center for Human Genetics Tuebingen	RCV003389907	SCV004132116	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	HNF1A: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp	RCV003389907	SCV004276885	likely benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003896176	SCV004710817	likely benign	HNF1A-related disorder	2020-11-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).