ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu)

gnomAD frequency: 0.00013  dbSNP: rs1446997240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571507 SCV001795995 likely benign not provided 2020-03-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882680 SCV002150494 uncertain significance Martsolf syndrome; Warburg micro syndrome 2 2022-08-20 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1204990). This variant has not been reported in the literature in individuals affected with RAB3GAP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.03%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 11 of the RAB3GAP2 protein (p.Phe11Leu).

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