ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)

gnomAD frequency: 0.00008  dbSNP: rs751144474
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028572 SCV002283736 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 397 of the TWNK protein (p.Asp397Gly). This variant is present in population databases (rs751144474, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical features of TWNK-related conditions (PMID: 28776642). ClinVar contains an entry for this variant (Variation ID: 1496673). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TWNK protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002479711 SCV002778590 uncertain significance Infantile onset spinocerebellar ataxia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Perrault syndrome 5 2022-01-20 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.