ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg)

gnomAD frequency: 0.00068  dbSNP: rs144158112
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545345 SCV000640937 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660547 SCV000782655 uncertain significance Congenital myasthenic syndrome 10 2017-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532503 SCV001748097 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
GeneDx RCV001532503 SCV001813373 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002528401 SCV003683522 uncertain significance Inborn genetic diseases 2022-04-14 criteria provided, single submitter clinical testing The c.1171G>A (p.G391R) 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 1171, causing the glycine (G) at amino acid position 391 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity Omics RCV001532503 SCV003832198 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing

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