ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup)

dbSNP: rs1940534700
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
Centogene AG - the Rare Disease Company RCV001809172 SCV002059620 uncertain significance Spinocerebellar ataxia type 5 2021-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541480 SCV003558398 uncertain significance Inborn genetic diseases 2021-03-26 criteria provided, single submitter clinical testing The c.5468_5470dupAGC (p.Q1823dup) alteration is located in exon 26 (coding exon 25) of the SPTBN2 gene. The alteration consists of an in-frame duplication of 3 nucleotides from position 5468 to 5470, resulting in the duplication of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003772266 SCV004659294 uncertain significance not provided 2022-12-13 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1333957). This variant has not been reported in the literature in individuals affected with SPTBN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.5468_5470dup, results in the insertion of 1 amino acid(s) of the SPTBN2 protein (p.Gln1823dup), but otherwise preserves the integrity of the reading frame.

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.