ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.753G>T (p.Ala251=)

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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 RCV003798563 SCV004581924 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2023-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753722 SCV005341486 uncertain significance DOK7-related disorder 2024-05-16 no assertion criteria provided clinical testing The DOK7 c.742G>T variant is predicted to result in the amino acid substitution p.Gly248Trp. Of note, in the primary transcript listed in the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php; NM_173660), this variant does not result in an amino acid change (c.753G>T, p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0041% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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