ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3604A>G (p.Thr1202Ala) (rs794728952)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183227 SCV000235651 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing The T1202A variant in the ABCC9 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. A different missense variant in the same residue (T1202M) has been reported in association with Cantu syndrome, supporting the functional importance of this residue. The T1202A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T1202A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position in the ABC transmembrane type-1 2 domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T1202A as a variant of unknown significance. This variant has been observed to be paternally inherited. The variant is found in ABCC9 panel(s).

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.