Submissions for variant NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)

dbSNP: rs1727004803

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198048	SCV001368833	likely pathogenic	Epileptic encephalopathy, infantile or early childhood, 1	2019-04-03	criteria provided, single submitter	clinical testing	This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
3billion	RCV002283526	SCV002572574	pathogenic	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	2022-09-01	criteria provided, single submitter	clinical testing	The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been previously reported as de novo in a similarly affected individual (PMID: 30904718). The variant has been reported to be associated with PPP3CA -related disorder (ClinVar ID: VCV000931475 / PMID: 30904718). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
CeGaT Center for Human Genetics Tuebingen	RCV002512144	SCV002821259	pathogenic	not provided	2022-11-01	criteria provided, single submitter	clinical testing	PPP3CA: PVS1, PS2, PM2