ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly)

gnomAD frequency: 0.00008  dbSNP: rs769974159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824558 SCV000965460 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 463 of the DOK7 protein (p.Glu463Gly). This variant is present in population databases (rs769974159, gnomAD 0.006%). 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: 666132). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509233 SCV001715836 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001509233 SCV003832143 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353066 SCV004057113 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.1388A>G (p.E463G) alteration is located in exon 7 (coding exon 7) of the DOK7 gene. This alteration results from a A to G substitution at nucleotide position 1388, causing the glutamic acid (E) at amino acid position 463 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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