ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)

gnomAD frequency: 0.00001  dbSNP: rs779312077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137195 SCV003819022 pathogenic not provided 2023-02-17 criteria provided, single submitter clinical testing
3billion RCV003152814 SCV003841908 pathogenic Warburg micro syndrome 1 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). This variant was 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 reported to be associated with RAB3GAP1 related disorder (PMID: 15696165). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV003152814 SCV004697814 pathogenic Warburg micro syndrome 1 2024-02-29 criteria provided, single submitter clinical testing

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