ClinVar Miner

Submissions for variant NM_001172435.2(RAB3GAP1):c.630_631insC (p.Ile211fs) (rs1064794536)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486190 SCV000569396 pathogenic not provided 2016-02-22 criteria provided, single submitter clinical testing The c.630_631insC pathogenic variant in the RAB3GAP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.630_631insC variant causes a frameshift starting with codon Isoleucine 211, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Ile211HisfsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.630_631insC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.630_631insC as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000500968 SCV000596657 pathogenic Warburg micro syndrome 1 2015-10-22 criteria provided, single submitter clinical testing

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