ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8359G>A (p.Ala2787Thr) (rs763395740)

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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735335 SCV000854489 uncertain significance Abnormality of the vertebral column; Dental malocclusion; Numerous nevi; Inability to walk; Skeletal muscle atrophy; Sensory ataxia; Abnormality of the dorsal column of the spinal cord criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000330793 SCV000342484 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV000820442 SCV000961155 uncertain significance Bethlem myopathy 1 2018-08-22 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 2787 of the COL6A3 protein (p.Ala2787Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs763395740, ExAC 0.03%). This variant has not been reported in the literature in individuals with COL6A3-related disease. ClinVar contains an entry for this variant (Variation ID: 288385). 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: "Tolerated"; PolyPhen-2: "Not Available"; 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.

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.