ClinVar Miner

Submissions for variant NM_001172435.2(RAB3GAP1):c.469G>T (p.Gly157Ter) (rs1558782178)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000680080 SCV000807520 pathogenic Warburg micro syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with another pathogenic variant in an 8-year-old female with intellectual disability, dystonia, dysmorphisms, microcephaly, joint contractures, scoliosis, failure to thrive, structural brain abnormalities, optic nerve hypoplasia, congenital cataract

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