ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388707 SCV004100431 likely pathogenic Warburg micro syndrome 1 criteria provided, single submitter clinical testing The frameshift duplication p.C181Mfs*9 in RAB3GAP1 (NM_012233.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.C181Mfs*9 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been reported previously to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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