Submissions for variant NM_000209.4(PDX1):c.165C>A (p.Gly55=)

gnomAD frequency: 0.00078  dbSNP: rs530567443

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000615233	SCV000732140	likely benign	not specified	2017-02-08	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.
Athena Diagnostics Inc	RCV000711998	SCV000842411	benign	not provided	2017-12-15	criteria provided, single submitter	clinical testing
Invitae	RCV000711998	SCV001043381	benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000615233	SCV002068162	likely benign	not specified	2020-03-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002404702	SCV002707506	likely benign	Maturity onset diabetes mellitus in young	2019-03-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711998	SCV004563184	likely benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing