ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)

gnomAD frequency: 0.00002  dbSNP: rs373583477
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230248 SCV001402722 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV002293514 SCV002586636 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Revvity Omics, Revvity RCV002293514 SCV003832821 uncertain significance not provided 2019-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166400 SCV003884035 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.2653G>A (p.A885T) alteration is located in exon 13 (coding exon 12) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 2653, causing the alanine (A) at amino acid position 885 to be replaced by a threonine (T). 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.