ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs766629205
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171306 SCV000221503 likely pathogenic not provided flagged submission 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

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