ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)

dbSNP: rs1064794536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486190 SCV000569396 pathogenic not provided 2022-06-03 criteria provided, single submitter clinical testing Frameshift 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); Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV000500968 SCV000596657 pathogenic Warburg micro syndrome 1 2015-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527590 SCV004111789 likely pathogenic RAB3GAP1-related disorder 2023-06-06 criteria provided, single submitter clinical testing The RAB3GAP1 c.630_631insC variant is predicted to result in a frameshift and premature protein termination (p.Ile211Hisfs*17). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD ( Frameshift variants in RAB3GAP1 are expected to be pathogenic. Therefore we interpret this variant as likely pathogenic.

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