Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000346526 | SCV000395811 | uncertain significance | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Ambry Genetics | RCV002328831 | SCV002628372 | uncertain significance | Hereditary pulmonary alveolar proteinosis | 2016-06-14 | criteria provided, single submitter | clinical testing | The c.4165-14T>C intronic variant results from a T to C substitution 14 nucleotides upstream from coding exon 25 in the ABCA3 gene. This variant was previously reported in the SNPDatabase as rs114420154. Based on data from the 1000 Genomes Project, the C allele has an overall frequency of approximately 0.14% (3/2098) total alleles studied. The highest observed frequency was 0.94% (1/106) African-American SW alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.08% (11/12994) total alleles studied, having been observed in 0.25% (11/4394) African American alleles. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
| Invitae | RCV002520993 | SCV003031620 | benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing |