ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.332-1G>T

dbSNP: rs1490214819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001376831 SCV001574004 likely pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2020-06-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DOK7 are known to be pathogenic (PMID: 16794080, 16917026, 18626973, 19261599). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the DOK7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Mayo Clinic Laboratories, Mayo Clinic RCV004793470 SCV005413633 likely pathogenic not provided 2024-06-14 criteria provided, single submitter clinical testing PM2, PM3_supporting, PVS1_strong

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