ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.931A>G (p.Met311Val)

gnomAD frequency: 0.00011  dbSNP: rs752949999
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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 RCV001878712 SCV002131631 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 311 of the DOK7 protein (p.Met311Val). This variant is present in population databases (rs752949999, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with DOK7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1370868). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine 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.

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