ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.28del (p.Gln10fs)

dbSNP: rs1560200925
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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 RCV000810302 SCV000950496 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2020-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DOK7 are known to be pathogenic (PMID: 16794080, 16917026, 18626973, 19261599). This variant has not been reported in the literature in individuals with DOK7-related conditions. ClinVar contains an entry for this variant (Variation ID: 654355). 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.Gln10Argfs*28) in the DOK7 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV001266796 SCV001444975 pathogenic Inborn genetic diseases 2018-05-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467438 SCV004194030 likely pathogenic Fetal akinesia deformation sequence 3 2023-08-31 criteria provided, single submitter clinical testing

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