ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1457del (p.Pro486fs)

dbSNP: rs1577184455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV000850086 SCV000992251 uncertain significance Congenital myasthenic syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001858465 SCV002200824 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro486Argfs*15) in the DOK7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the DOK7 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome (PMID: 29118959). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 689376). For these reasons, this variant has been classified as Pathogenic.
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences RCV001280921 SCV001451420 uncertain significance Congenital myasthenic syndrome 10 no assertion criteria provided clinical testing

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