ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.914A>G (p.Gln305Arg)

gnomAD frequency: 0.00002  dbSNP: rs747816956
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641545 SCV000763187 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-07-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 534125). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The arginine 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. This variant has not been reported in the literature in individuals affected with DOK7-related conditions. This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 305 of the DOK7 protein (p.Gln305Arg). This variant is present in population databases (rs747816956, gnomAD 0.004%).

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