Submissions for variant NM_000209.4(PDX1):c.498A>G (p.Leu166=)

gnomAD frequency: 0.00007  dbSNP: rs780117858

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002087882	SCV002377987	likely benign	not provided	2023-08-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002337253	SCV002642274	likely benign	Maturity onset diabetes mellitus in young	2019-06-29	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.
Fulgent Genetics, Fulgent Genetics	RCV002494156	SCV002796049	likely benign	Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus	2021-10-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553695	SCV004746602	likely benign	PDX1-related disorder	2019-08-13	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).