ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)

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 RCV002916017 SCV003658623 uncertain significance Inborn genetic diseases 2022-11-01 criteria provided, single submitter clinical testing The c.3142A>G (p.T1048A) alteration is located in exon 15 (coding exon 14) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 3142, causing the threonine (T) at amino acid position 1048 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003420467 SCV004109725 uncertain significance COL12A1-related disorder 2023-05-01 criteria provided, single submitter clinical testing The COL12A1 c.3142A>G variant is predicted to result in the amino acid substitution p.Thr1048Ala. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777944 SCV004591437 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-12-02 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL12A1 protein function. This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1048 of the COL12A1 protein (p.Thr1048Ala).

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.