ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg)

dbSNP: rs1553278790
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552194 SCV000636688 uncertain significance Martsolf syndrome; Warburg micro syndrome 2 2017-07-12 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 104 of the RAB3GAP2 protein (p.Trp104Arg). The tryptophan residue is moderately conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAB3GAP2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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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