ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=)

gnomAD frequency: 0.00001  dbSNP: rs138809681
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551662 SCV000636682 uncertain significance Martsolf syndrome; Warburg micro syndrome 2 2022-03-17 criteria provided, single submitter clinical testing This sequence change affects codon 60 of the RAB3GAP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RAB3GAP2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs138809681, gnomAD 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: 463028). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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