ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly)

gnomAD frequency: 0.00003  dbSNP: rs1390831169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002041932 SCV002113782 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 432 of the DOK7 protein (p.Arg432Gly). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DOK7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1350530). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002482434 SCV002792876 uncertain significance Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3 2021-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003487799 SCV004234392 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing

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