ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.386C>T (p.Ala129Val)

gnomAD frequency: 0.00001  dbSNP: rs1158650422
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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 RCV002012197 SCV002237475 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2021-06-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 129 of the DOK7 protein (p.Ala129Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). 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. 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with DOK7-related conditions.

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