ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001289432 SCV001477245 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing
Invitae RCV001302063 SCV001491255 uncertain significance Charcot-Marie-Tooth disease type 4 2020-03-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 517 of the FGD4 protein (p.Gln517Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs199546503, ExAC 0.2%). This variant has not been reported in the literature in individuals with FGD4-related conditions. 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: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C3). 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. 5

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