ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.3028G>A (p.Asp1010Asn)

gnomAD frequency: 0.00001  dbSNP: rs763047721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503801 SCV000596670 uncertain significance not specified 2017-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857154 SCV002287583 uncertain significance Martsolf syndrome; Warburg micro syndrome 2 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1010 of the RAB3GAP2 protein (p.Asp1010Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs763047721, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with RAB3GAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 436475). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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