ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.1609_1611+4delinsCCA (rs876657633)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215018 SCV000271202 likely pathogenic Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies; Diffuse interstitial pulmonary fibrosis 2015-02-26 criteria provided, single submitter clinical testing The c.1609_1611+4delinsCCA variant in ABCA3 has been previously reported in 1 co mpound heterozygous individual with interstitial lung disease (Doan 2008, Wambac h 2014). Data from large population studies is insufficient to assess the freque ncy of this variant. This variant removes the last 3 bases of exon 13 along with the highly conserved +1 and +2 positions in the 5' splice site consensus sequen ce, and inserts three new bases. This deletion/insertion variant is expected to disrupt splicing and lead to an abnormal or absent protein. In summary, although additional studies are required to fully establish its clinical significance, t he c.1609_1611+4delinsCCA variant is likely pathogenic.

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.