Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003555974 | SCV004296355 | pathogenic | not provided | 2023-03-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 8011). This premature translational stop signal has been observed in individual(s) with autosomal recessive clinical surfactant deficiency (PMID: 15044640). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1142*) in the ABCA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA3 are known to be pathogenic (PMID: 27516224). |
OMIM | RCV000008475 | SCV000028683 | pathogenic | Interstitial lung disease due to ABCA3 deficiency | 2004-03-25 | no assertion criteria provided | literature only |