Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001116329 | SCV001274391 | uncertain significance | Interstitial lung disease due to ABCA3 deficiency | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Labcorp Genetics |
RCV002069875 | SCV002383538 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429764 | SCV002730854 | uncertain significance | Hereditary pulmonary alveolar proteinosis | 2022-10-23 | criteria provided, single submitter | clinical testing | The p.G739A variant (also known as c.2216G>C), located in coding exon 14 of the ABCA3 gene, results from a G to C substitution at nucleotide position 2216. The glycine at codon 739 is replaced by alanine, an amino acid with similar properties. In a population-based cohort from Missouri, this variant was identified in two infants of European descent (Wambach JA et al. Pediatrics, 2012 Dec;130:e1575-82). This amino acid position is highly 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. |
Gene |
RCV002069875 | SCV004170075 | uncertain significance | not provided | 2023-10-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as a pathogenic variant in association with ABCA3-related disorders to our knowledge; This variant is associated with the following publications: (PMID: 23166334) |
Prevention |
RCV003918701 | SCV004739485 | likely benign | ABCA3-related disorder | 2022-04-28 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |