ClinVar Miner

Submissions for variant NM_001098668.4(SFTPA2):c.171A>G (p.Pro57=)

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
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052194 SCV005685186 uncertain significance Interstitial lung disease 2 2024-05-27 criteria provided, single submitter clinical testing The SFTPA2 c.171A>G (p.Pro57= ) variant, to our knowledge, has not been reported in the medical literature. Computational predictors indicate that this variant would alter splicing, evidence that correlates to an impact of this variant SFTPA2 function. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.0342% in the European-Non Finnish population. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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.