ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) (rs755429175)

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
Ambry Genetics RCV000622155 SCV000738721 uncertain significance Cardiovascular phenotype 2016-08-08 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000704933 SCV000833906 uncertain significance Ehlers-Danlos syndrome, classic type 2019-04-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1216 of the COL5A2 protein (p.Glu1216Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs755429175, ExAC 0.003%). This variant has not been reported in the literature in individuals with COL5A2-related disease. ClinVar contains an entry for this variant (Variation ID: 519677). 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: "Deleterious"; PolyPhen-2: "Unavailable"; Align-GVGD: "Class C0"). 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.
GenomeConnect, ClinGen RCV000704933 SCV001423377 not provided Ehlers-Danlos syndrome, classic type no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01-20-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.