ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.922G>A (p.Gly308Arg)

gnomAD frequency: 0.00006  dbSNP: rs759691572
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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 RCV000800181 SCV000939881 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 308 of the DOK7 protein (p.Gly308Arg). This variant is present in population databases (rs759691572, gnomAD 0.01%). 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: 645987). 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: "Tolerated"; 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.
Ambry Genetics RCV002534630 SCV003694056 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.922G>A (p.G308R) alteration is located in exon 7 (coding exon 7) of the DOK7 gene. This alteration results from a G to A substitution at nucleotide position 922, causing the glycine (G) at amino acid position 308 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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