ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)

gnomAD frequency: 0.00001  dbSNP: rs532964185
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000656360 SCV000891550 pathogenic Warburg micro syndrome 1 2017-12-30 criteria provided, single submitter curation
Invitae RCV001855346 SCV002234646 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg347*) 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). This variant is present in population databases (rs532964185, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of Warburg Micro syndrome (PMID: 23420520). ClinVar contains an entry for this variant (Variation ID: 545410). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002507142 SCV002810905 pathogenic Warburg micro syndrome 1; Martsolf syndrome 2 2022-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001855346 SCV003842415 pathogenic not provided 2022-09-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation [or nonsense mediated decay] in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34169787, 31589614, 32740904, 23420520)
GeneReviews RCV000656360 SCV000778356 not provided Warburg micro syndrome 1 no assertion provided literature only

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