ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.387-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reproductive Endocrine Unit, Massachusetts General Hospital RCV001090067 SCV001245468 likely pathogenic Cataract-intellectual disability-hypogonadism syndrome 2020-02-01 criteria provided, single submitter research The c.387-2A>G variant has a frequency of 4.1E-06 in gnomAD and four independent splice prediction programs (BDGP, ASSP, Mutation Taster, and Human Splicing Finder) categorized this variant as deleterious secondary to a splicing defect. The phase of this variant is not known.

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