ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.161G>A (p.Arg54His)

dbSNP: rs201818140
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000329116 SCV000337970 uncertain significance not provided 2015-12-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088526 SCV000640958 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000329116 SCV003832195 benign not provided 2023-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362744 SCV004056130 uncertain significance Inborn genetic diseases 2023-07-05 criteria provided, single submitter clinical testing The c.161G>A (p.R54H) alteration is located in exon 3 (coding exon 3) of the DOK7 gene. This alteration results from a G to A substitution at nucleotide position 161, causing the arginine (R) at amino acid position 54 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000329116 SCV005327512 uncertain significance not provided 2024-03-13 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; This variant is associated with the following publications: (PMID: 26198629, 20012313, 20603078)

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