ClinVar Miner

Submissions for variant NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)

dbSNP: rs864309527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS RCV000202604 SCV000257550 pathogenic Parkinson disease, X-linked dominant 2015-09-14 criteria provided, single submitter research It segregates with disease in the family, affects a highly conserved amino acid, and functional work whos that this mutation alters the intracellular localization of the protein.
OMIM RCV000207511 SCV000263070 pathogenic Early-onset parkinsonism-intellectual disability syndrome 2015-09-24 no assertion criteria provided literature only

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