ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1258C>A (p.Pro420Thr)

dbSNP: rs150497723
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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 RCV001351701 SCV001546195 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 420 of the DOK7 protein (p.Pro420Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs150497723, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DOK7-related conditions. 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. 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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