Submissions for variant NM_006494.4(ERF):c.697C>T (p.Arg233Ter)

dbSNP: rs2036401878

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001266260	SCV001444433	pathogenic	Inborn genetic diseases	2018-03-12	criteria provided, single submitter	clinical testing
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	RCV002254342	SCV002525579	pathogenic	not provided	2020-12-14	criteria provided, single submitter	clinical testing	This variant has not been observed in large population studies (Genome Aggregation Database v2.1.1). This variant has also not been reported in the medical literature or ClinVar database in clinically affected individuals. This variant is predicted to create a premature termination codon at protein position 233 (of 549 total amino acids). The truncated protein would lack the C-terminal ERK interaction and repressor domains. While the ERF p.Arg233* variant has not been reported before, other nearby protein-truncating variants have been reported in affected individuals.
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	RCV004587095	SCV004229151	pathogenic	Noonan Syndrome-like developmental disorder	2023-12-31	criteria provided, single submitter	research
Institute of Human Genetics, University of Leipzig Medical Center	RCV004762040	SCV005368270	pathogenic	Craniosynostosis 4	2024-08-12	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PS4_SUP,PM2_SUP