ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.1283C>A (p.Ala428Glu)

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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 RCV001090068 SCV001245469 likely pathogenic Cataract-intellectual disability-hypogonadism syndrome 2020-02-01 criteria provided, single submitter research The c.1283C>A variant, which is maternally inherited, is novel and disrupts a highly conserved amino acid residue, and is predicted either as deleterious/damaging by multiple prediction programs (SIFT, Polyphen, CADD and REVEL).

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