ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003122083 SCV003789679 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 244 of the DOK7 protein (p.Arg244Gln). This variant is present in population databases (rs755873468, gnomAD 0.01%). 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: "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.
Revvity Omics, Revvity RCV003143585 SCV003832230 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing

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