ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1379A>G (p.Gln460Arg)

gnomAD frequency: 0.00001  dbSNP: rs898026035
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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 RCV001897389 SCV002149828 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 460 of the DOK7 protein (p.Gln460Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DOK7-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 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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