Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000913469 | SCV001058617 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Johns Hopkins Genomics, |
RCV001257124 | SCV001433648 | uncertain significance | Interstitial lung disease due to ABCA3 deficiency | 2019-12-06 | criteria provided, single submitter | clinical testing | ABCA3 c.5C>A has not been reported in ClinVar nor the literature, to our knowledge. This variant (rs148662935) has been identified in a large population dataset and the minor allele frequency is neither low enough to consider the variant rare (<0.1%) nor high enough to consider it a population polymorphism (>1%) within the African subpopulation (gnomAD: 73/24134 alleles; 0.3025%, no homozygotes). Of three bioinformatics tools queried, one predicts that the substitution would be damaging, while two predict that it would be tolerated. Additionally, the alanine residue at this position is evolutionarily conserved across primates and most high-order species assessed6. Bioinformatic analysis predicts that this missense variant would not affect normal exon 4 splicing, although this has not been confirmed experimentally to our knowledge. Due to lack of functional data, we consider the clinical significance of c.5C>A to be uncertain at this time. |