Submissions for variant NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)

gnomAD frequency: 0.00423  dbSNP: rs535090775

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV001172452	SCV000152413	benign	not specified	2019-03-07	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445414	SCV000537074	uncertain significance	Monogenic diabetes	2015-10-27	criteria provided, single submitter	research	ACMG Criteria: BP4
Fulgent Genetics, Fulgent Genetics	RCV000764885	SCV000896045	uncertain significance	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome; Pancreatic agenesis 2	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000118081	SCV001112390	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103692	SCV001260484	benign	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	2017-04-27	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
New York Genome Center	RCV002467566	SCV002764575	uncertain significance	Pancreatic agenesis 2	2021-02-09	criteria provided, single submitter	clinical testing