Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001116108 | SCV001274143 | uncertain significance | Interstitial lung disease due to ABCA3 deficiency | 2017-04-28 | 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. |
Invitae | RCV002069869 | SCV002447139 | likely benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429762 | SCV002744559 | uncertain significance | Hereditary pulmonary alveolar proteinosis | 2016-02-24 | criteria provided, single submitter | clinical testing | The p.S872G variant (also known as c.2614A>G), located in coding exon 17 of the ABCA3 gene, results from an A to G substitution at nucleotide position 2614. The serine at codon 872 is replaced by glycine, an amino acid with similar properties. In one study, p.S872G was detected in a individual with respiratory distress syndrome and interstitial lung disease; however, a second alteration was not detected (Flamein F et al, Hum. Mol. Genet. 2012 Feb; 21(4):765-75). This variant was previously reported in the SNPDatabase as rs151078160. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.05% (7/12974) total alleles studied, having been observed in 0.11% (5/4384) African American alleles and 0.02% (2/8590) European American alleles. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Prevention |
RCV003953488 | SCV004775551 | uncertain significance | ABCA3-related condition | 2023-11-22 | criteria provided, single submitter | clinical testing | The ABCA3 c.2614A>G variant is predicted to result in the amino acid substitution p.Ser872Gly. This variant was reported in an child with diffuse parenchymal lung diseases (Flamein et al 2012. PubMed ID: 22068586). This variant is reported in 0.24% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. This variant could be benign. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |