ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.54+25_55-38del

dbSNP: rs769850502
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036401 SCV001199762 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-01-16 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the DOK7 gene. It does not directly change the encoded amino acid sequence of the DOK7 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 18626973, 20012313, 20458068, 23219351). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.54+25_39del15 or IVS1+14del15. ClinVar contains an entry for this variant (Variation ID: 835508). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001091297 SCV001247239 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
GeneDx RCV001091297 SCV002044211 pathogenic not provided 2022-01-11 criteria provided, single submitter clinical testing Published cDNA analysis confirmed a damaging effect, as this intronic variant resulted in the partial retention of exon 1 and a frameshift, leading to a premature stop codon (Selcen et al., 2008); This variant is associated with the following publications: (PMID: 20012313, 23219351, 18626973, 20458068, 32403337, 27535533)
Baylor Genetics RCV003467708 SCV004194035 likely pathogenic Fetal akinesia deformation sequence 3 2024-02-27 criteria provided, single submitter clinical testing

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