Submissions for variant NM_178161.3(PTF1A):c.162C>T (p.Ser54=)

gnomAD frequency: 0.00110  dbSNP: rs117678424

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000365135	SCV000361876	likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000903959	SCV001048451	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002227121	SCV002506569	uncertain significance	Neonatal insulin-dependent 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, the role of this particulat variant (rs117678424) in neonatal diabetes is yet to be ascertained.