ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2761A>G (p.Thr921Ala)

gnomAD frequency: 0.00021  dbSNP: rs143226402
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
Baylor Genetics RCV001331797 SCV001523920 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2020-02-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001331797 SCV003514942 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 921 of the DSE protein (p.Thr921Ala). This variant is present in population databases (rs143226402, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030281). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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 RCV004035720 SCV004859421 uncertain significance Inborn genetic diseases 2023-12-21 criteria provided, single submitter clinical testing The c.2761A>G (p.T921A) alteration is located in exon 6 (coding exon 5) of the DSE gene. This alteration results from a A to G substitution at nucleotide position 2761, causing the threonine (T) at amino acid position 921 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.