ClinVar Miner

Submissions for variant NM_015548.5(DST):c.22del (p.Tyr8fs) (rs775912185)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000435097 SCV000334155 likely pathogenic not provided 2015-08-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000435097 SCV000510614 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000435097 SCV000564950 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing The c.22delT variant in the DST gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.22delT variant causes a frameshift starting with codon Tyrosine 8, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 33 of the new reading frame, denoted p.Tyr8ThrfsX33. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.22delT variant was not observed at any significant frequency in approximately 6300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.22delT as a variant of uncertain significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000435097 SCV000575476 likely pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV000540587 SCV000654490 uncertain significance Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 2018-12-21 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide in exon 1 of the DST mRNA (c.22delT), causing a frameshift at codon 8. This creates a premature translational stop signal (p.Tyr8Thrfs*33) and is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs775912185, ExAC 0.04%). This variant has not been reported in the literature in individuals with DST-related disease. ClinVar contains an entry for this variant (Variation ID: 282605). In summary, this variant is an out-of-frame deletion that is expected to result in an absent or disrupted protein product. However, it is found in the population at an appreciable frequency and it has not previously been reported to cause disease. For these reasons, this variant has been classified as a Variant of Uncertain Significance.

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.