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

dbSNP: rs1577184455

Total submissions: 4

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
Labcorp Genetics (formerly Invitae), Labcorp	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.
Baylor Genetics	RCV004569796	SCV005059594	pathogenic	Fetal akinesia deformation sequence 3	2024-02-17	criteria provided, single submitter	clinical testing
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences	RCV001280921	SCV001451420	uncertain significance	Congenital myasthenic syndrome 10		no assertion criteria provided	clinical testing