Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001200876 | SCV001371780 | likely pathogenic | Interstitial lung disease due to ABCA3 deficiency | 2020-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321996 | SCV002610267 | uncertain significance | Hereditary pulmonary alveolar proteinosis | 2014-06-30 | criteria provided, single submitter | clinical testing | The p.N1076K variant (also known as c.3228C>G), located in coding exon 19 of the ABCA3 gene, results from a C to G substitution at nucleotide position 3228. The asparagine at codon 1076 is replaced by lysine, an amino acid with similar properties. This variant was observed with another pathogenic mutation in a 23 year old patient with desquamative interstitial pneumonitis, but information on phase (cis vs trans) was not available (Bullard JE, Am. J. Respir. Crit. Care Med. 2005 Oct; 172(8):1026-31).This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. This amino acid position is highly conserved on sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. |