Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731191 | SCV000858973 | uncertain significance | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360855 | SCV002666180 | uncertain significance | Hereditary pulmonary alveolar proteinosis | 2015-11-04 | criteria provided, single submitter | clinical testing | The p.A230V variant (also known as c.689C>T), located in coding exon 5 of the ABCA3 gene, results from a C to T substitution at nucleotide position 689. The alanine at codon 230 is replaced by valine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs148507388. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.02% (2/12996) total alleles studied, having been observed in 0.05% (2/4396) African American alleles. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |