ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter)

dbSNP: rs2104943498
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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 RCV001823456 SCV002072902 likely pathogenic Warburg micro syndrome 1 criteria provided, single submitter clinical testing The stop gained p.S400* in RAB3GAP1 (NM_012233.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.S400* 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 mutations have been reported to be disease causing previously. For these reasons, this variant has been classified as Likely Pathogenic

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