Submissions for variant NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)

gnomAD frequency: 0.51842  dbSNP: rs7918487

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001093986	SCV000361881	benign	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics	RCV000333285	SCV001138010	benign	Permanent neonatal diabetes mellitus	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001522641	SCV001732226	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001522641	SCV001949397	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795174	SCV002033285	benign	Pancreatic agenesis 2	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001093986	SCV002033286	benign	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003226203	SCV003915676	uncertain significance	Pancreatic beta cell agenesis with neonatal diabetes mellitus		criteria provided, single submitter	research	PTF1A gene is associated with neonatal onset diabetes due to pancreatic aplasia, leading to insulin dependence. It is associated with extra pancreatic manifestation of neurological impairment. However, more evidence is required to ascertain the the role of this particular variant rs7918487 in neonatal diabetes.
Genetic Services Laboratory, University of Chicago	RCV000118082	SCV000152414	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.