ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1406C>A (p.Pro469His)

gnomAD frequency: 0.00011  dbSNP: rs147185207
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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 RCV000641549 SCV000763191 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-12-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144415 SCV003832194 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752978 SCV005358405 uncertain significance DOK7-related disorder 2024-03-05 no assertion criteria provided clinical testing The DOK7 c.1406C>A variant is predicted to result in the amino acid substitution p.Pro469His. This variant was reported in trans with another missense variant in an individual with congenital myasthenic syndrome (Muller et al. 2007. PubMed ID: 17439981). This variant is reported in 0.40% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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