ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs)

dbSNP: rs775903641
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000758240 SCV000886878 pathogenic Interstitial lung disease due to ABCA3 deficiency 2019-02-04 criteria provided, single submitter clinical testing This ABCA3 variant (rs775903641) is rare in large population datasets (gnomAD: 1/250896 total alleles; 0.0004%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. This frameshift variant results in a premature stop codon in exon 11 likely leading to nonsense-mediated decay and lack of protein production. This variant is considered pathogenic.
Ambry Genetics RCV002424755 SCV002679622 pathogenic Hereditary pulmonary alveolar proteinosis 2017-06-22 criteria provided, single submitter clinical testing The c.817_821delTACAC pathogenic mutation, located in coding exon 5 of the ABCA3 gene, results from a deletion of 5 nucleotides at nucleotide positions 817 to 821, causing a translational frameshift with a predicted alternate stop codon (p.Y273Rfs*138). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.