Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
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. |