ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1228A>G (p.Ser410Gly)

gnomAD frequency: 0.00001  dbSNP: rs547633164
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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 RCV001950510 SCV002217732 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-05-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 410 of the DOK7 protein (p.Ser410Gly). This variant is present in population databases (rs547633164, gnomAD 0.09%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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.

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