ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)

dbSNP: rs118203995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781161 SCV002021743 pathogenic not provided 2023-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851535 SCV002142921 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2023-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg201*) in the DOK7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOK7 are known to be pathogenic (PMID: 16794080, 16917026, 18626973, 19261599). This variant is present in population databases (rs118203995, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with congenital myasthenic syndrome (PMID: 16917026, 25849006). ClinVar contains an entry for this variant (Variation ID: 1279). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects DOK7 function (PMID: 18165682). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004566668 SCV005059601 pathogenic Fetal akinesia deformation sequence 3 2023-12-10 criteria provided, single submitter clinical testing
OMIM RCV000001341 SCV000021491 pathogenic Congenital myasthenic syndrome 10 2006-09-29 no assertion criteria provided literature only

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