ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.1555-1G>A (rs1573584395)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000984501 SCV001132553 pathogenic Warburg micro syndrome 1 2018-11-15 criteria provided, single submitter research The homozygous c.1555-1G>A variant in RAB3GAP1 was identified by our study in one individual with Warburg Micro Syndrome. This variant has been identified in the literature in one proband who was compound heterozygous for the c.1186+1G>A variant as well as the c.895-1G>A variant (Tonelli et al. 2010, PMID: 20584031). The c.1555-1G>A variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein.This variant was absent from large population studies. Loss of function of the RAB3GAP1 gene is an established disease mechanism in autosomal recessive Warburg Micro Syndrome, and this is a loss of function variant. In summary, the c.1555-1G>A variant is pathogenic.

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