ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)

gnomAD frequency: 0.00003  dbSNP: rs373637483
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
GeneDx RCV000518879 SCV000620916 uncertain significance not provided 2018-04-18 criteria provided, single submitter clinical testing The R1128K variant in the COL12A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 5/8616 alleles (0.058%) from individuals of East Asian background in the ExAC dataset with no homozygous control individuals reported (Lek et al., 2016) The R1128K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across mammalian species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R1128K as a variant of uncertain significance.
Invitae RCV000802768 SCV000942611 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527638 SCV003709559 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.3383G>A (p.R1128K) alteration is located in exon 16 (coding exon 15) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 3383, causing the arginine (R) at amino acid position 1128 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000518879 SCV003833373 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing

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.