ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)

dbSNP: rs1558792256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679853 SCV000807199 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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