ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.878G>T (p.Ser293Ile)

gnomAD frequency: 0.00001  dbSNP: rs767303929
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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 RCV001911963 SCV002143362 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2021-11-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 293 of the DOK7 protein (p.Ser293Ile). 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 not been reported in the literature in individuals affected with DOK7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004041065 SCV004861336 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.878G>T (p.S293I) alteration is located in exon 7 (coding exon 7) of the DOK7 gene. This alteration results from a G to T substitution at nucleotide position 878, causing the serine (S) at amino acid position 293 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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