ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.957del (p.Lys320fs)

dbSNP: rs794727884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180012 SCV000232346 pathogenic not provided 2015-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390616 SCV001592405 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2021-04-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the DOK7 protein. Other variants that disrupt this region (p.Cys412*, p.Gln460*, p.Gly479Hisfs*13) have been observed in individuals with DOK7-related conditions (PMID: 20458068, 20012313, 28716243). This suggests that this may be a clinically significant region of the protein. This variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 22884442, 28024842). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 198626). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Lys320Serfs*136) in the DOK7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 185 amino acid(s) of the DOK7 protein.
OMIM RCV003221839 SCV003842199 pathogenic Congenital myasthenic syndrome 10 1992-01-01 no assertion criteria provided literature only

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