ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg)

gnomAD frequency: 0.00002  dbSNP: rs142510199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002014541 SCV002231101 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 415 of the DOK7 protein (p.Pro415Arg). This variant is present in population databases (rs142510199, gnomAD 0.005%). 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: "Possibly 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.
Revvity Omics, Revvity RCV003146405 SCV003832227 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975990 SCV005575636 uncertain significance Inborn genetic diseases 2024-07-16 criteria provided, single submitter clinical testing The c.1244C>G (p.P415R) alteration is located in exon 7 (coding exon 7) of the DOK7 gene. This alteration results from a C to G substitution at nucleotide position 1244, causing the proline (P) at amino acid position 415 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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