Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001121350 | SCV001279947 | likely benign | Interstitial lung disease due to ABCA3 deficiency | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Ambry Genetics | RCV002402509 | SCV002710776 | uncertain significance | Hereditary pulmonary alveolar proteinosis | 2019-12-16 | criteria provided, single submitter | clinical testing | The p.V563I variant (also known as c.1687G>A), located in coding exon 11 of the ABCA3 gene, results from a G to A substitution at nucleotide position 1687. The valine at codon 563 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003698834 | SCV004465985 | likely benign | not provided | 2024-09-16 | criteria provided, single submitter | clinical testing |