Submissions for variant NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)

gnomAD frequency: 0.00001  dbSNP: rs766629205

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000171306	SCV000221503	likely pathogenic	not provided		criteria provided, single submitter	research
Invitae	RCV000171306	SCV003524710	pathogenic	not provided	2022-09-29	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 191126). This premature translational stop signal has been observed in individual(s) with Warburg micro syndrome (PMID: 26421802, 30202406). This variant is present in population databases (rs766629205, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg337*) in the RAB3GAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAB3GAP1 are known to be pathogenic (PMID: 23420520).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000985082	SCV004805024	pathogenic	Warburg micro syndrome 1	2024-03-17	criteria provided, single submitter	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000985082	SCV001133042	pathogenic	Warburg micro syndrome 1	2019-09-26	no assertion criteria provided	clinical testing