ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys)

gnomAD frequency: 0.00002  dbSNP: rs751691265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641533 SCV000763175 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 394 of the DOK7 protein (p.Glu394Lys). This variant is present in population databases (rs751691265, gnomAD 0.01%). 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: 534115). 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.
Ambry Genetics RCV002530001 SCV003536669 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.1180G>A (p.E394K) alteration is located in exon 7 (coding exon 7) of the DOK7 gene. This alteration results from a G to A substitution at nucleotide position 1180, causing the glutamic acid (E) at amino acid position 394 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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