ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.713-2A>G (rs797045103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578596 SCV000681311 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing The c.713-2 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.713-2 A>G variant is not observed in large population cohorts (Lek et al., 2016). The c.713-2 A>G splice site variant destroys the canonical splice acceptor site in intron 8. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190619 SCV000245655 likely pathogenic Warburg micro syndrome 2 2014-11-13 criteria provided, single submitter clinical testing The c.713-2A>G variant in RAB3GAP2 has not been previously reported in individuals with disease or in large population studies. This 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. Complete loss-of-function of the RAB3GAP2 gene has been previously described in several individuals with Warburg micro syndrome (Handley 2013). In summary, although additional studies are required to fully establish its clinical significance, the c.713-2A>G variant in RAB3GAP2 is likely pathogenic for Warburg micro syndrome in an autosomal recessive manner.

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