ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.21509G>A (p.Arg7170Gln)

dbSNP: rs201690182
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243563 SCV001416731 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-09-01 criteria provided, single submitter clinical testing The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*133445G>A in the primary transcript This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 4547 of the DST protein (p.Arg4547Gln). This variant is present in population databases (rs201690182, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DST-related conditions. ClinVar contains an entry for this variant (Variation ID: 968433). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002393634 SCV002704774 uncertain significance Inborn genetic diseases 2022-09-02 criteria provided, single submitter clinical testing The p.R5051Q variant (also known as c.15152G>A), located in coding exon 84 of the DST gene, results from a G to A substitution at nucleotide position 15152. The arginine at codon 5051 is replaced by glutamine, 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793347 SCV005407853 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing BP4

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.