ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.7G>A (p.Glu3Lys)

dbSNP: rs763233743
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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 RCV002025813 SCV002287994 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 3 of the DOK7 protein (p.Glu3Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs763233743, ExAC 0.01%). This missense change has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 22661499; Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects DOK7 function (PMID: 22661499). 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.

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