Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001117779 | SCV001276000 | uncertain significance | Interstitial lung disease due to ABCA3 deficiency | 2017-07-22 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Ambry Genetics | RCV002418584 | SCV002726792 | uncertain significance | Hereditary pulmonary alveolar proteinosis | 2019-02-19 | criteria provided, single submitter | clinical testing | The p.S693L variant (also known as c.2078C>T), located in coding exon 14 of the ABCA3 gene, results from a C to T substitution at nucleotide position 2078. The serine at codon 693 is replaced by leucine, an amino acid with dissimilar properties. In a population-based cohort from Missouri, this variant was identified in 1/871 infants of European descent (Wambach JA et al. Pediatrics, 2012 Dec;130:e1575-82). In another study of individuals with severe neonatal respiratory failure or childhood interstitial lung disease, this alteration was confirmed in trans with a second ABCA3 alteration in a set of male twins; it was also detected alone in a third individual with lung disease and no identifiable ABCA3 alteration on the seond allele (Wambach JA et al. Am. J. Respir. Crit. Care Med., 2014 Jun;189:1538-43). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV001117779 | SCV002791000 | uncertain significance | Interstitial lung disease due to ABCA3 deficiency | 2022-02-24 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003322851 | SCV004028112 | uncertain significance | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | Identified in twins with lung disease, who also harbored two additional variants in the ABCA3 gene (Wambach et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27352740, 23166334, 34638622, 24871971) |