ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.155G>A (p.Arg52Gln)

gnomAD frequency: 0.00006  dbSNP: rs201953114
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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 RCV000641537 SCV000763179 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-10-04 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 52 of the DOK7 protein (p.Arg52Gln). This variant is present in population databases (rs201953114, gnomAD 0.02%). 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: 534118). 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.
GeneDx RCV001731835 SCV001981916 uncertain significance not provided 2021-06-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 26198629, 20603078, 20012313)
Revvity Omics, Revvity RCV001731835 SCV003832175 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025620 SCV004861327 uncertain significance Inborn genetic diseases 2023-12-27 criteria provided, single submitter clinical testing The c.155G>A (p.R52Q) alteration is located in exon 3 (coding exon 3) of the DOK7 gene. This alteration results from a G to A substitution at nucleotide position 155, causing the arginine (R) at amino acid position 52 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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