ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)

gnomAD frequency: 0.00003  dbSNP: rs587782931
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617639 SCV000736453 uncertain significance Cardiovascular phenotype 2021-12-21 criteria provided, single submitter clinical testing The p.C270Y variant (also known as c.809G>A), located in coding exon 2 of the NKX2-5 gene, results from a G to A substitution at nucleotide position 809. The cysteine at codon 270 is replaced by tyrosine, an amino acid with highly dissimilar properties. This variant has been reported in individuals with a variety of phenotypes, including congenital heart defects, Jervell Lange-Nielsen, and dilated cardiomyopathy, as well as in unaffected family members; some cases also had additional cardiac variants detected (Rauch R et al. J. Med. Genet., 2010 May;47:321-31; Abou Hassan OK et al. Sci Rep, 2015 Mar;5:8848; Uysal F et al. BMC Med. Genet., 2017 10;18:114; Monaco I et al. J Electrocardiol, 2018 Dec;53:40-43). This amino acid position is highly conserved in available vertebrate species; however, tyrosine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000644453 SCV000766149 likely benign Atrial septal defect 7 2024-01-05 criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV003318350 SCV004022076 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PP2, PP3, BS2
CeGaT Center for Human Genetics Tuebingen RCV003430707 SCV004158039 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing NKX2-5: PS4:Moderate, PM6:Supporting, PP3
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut RCV000144179 SCV000188643 likely benign Single ventricle; small Atrial septal defect 2014-01-01 no assertion criteria provided research

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.