ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn)

gnomAD frequency: 0.00002  dbSNP: rs768943327
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806021 SCV000946001 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1099 of the COL12A1 protein (p.Thr1099Asn). This variant is present in population databases (rs768943327, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of COL12A1-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 650797). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt COL12A1 protein function with a negative predictive value of 80%. 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.
GeneDx RCV001776020 SCV002012666 uncertain significance not provided 2023-09-14 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

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.