ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)

gnomAD frequency: 0.00095  dbSNP: rs199628430
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625438 SCV000745355 uncertain significance Hereditary sensory and autonomic neuropathy type 6 2016-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000801103 SCV000940862 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2025-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395638 SCV002699210 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The p.N4694S variant (also known as c.14081A>G), located in coding exon 78 of the DST gene, results from an A to G substitution at nucleotide position 14081. The asparagine at codon 4694 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529345 SCV001742626 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001529345 SCV001923576 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003905674 SCV004724067 likely benign DST-related disorder 2023-06-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.