Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587538 | SCV000698595 | uncertain significance | not provided | 2017-02-27 | criteria provided, single submitter | clinical testing | Variant summary: The ABCA1 c.5690G>A (p.Arg1897Gln) variant involves the alteration of a conserved nucleotide. It is located outside of some of known domains in ABCA1 protein and is predicted to be benign by 3/5 in silico tools. This variant was found in 3/121336 control chromosomes from ExAC at a frequency of 0.0000247, which is approximately 1.98 times the estimated maximal expected allele frequency of a pathogenic ABCA1 variant (0.0000125), suggesting this variant may be a rare benign polymorphism. However, with only three occurrences in ExAC, it is uncertain. The variant of interest has not, to our knowledge, been reported in literature and databases in affected individuals with phenotypes linked to this gene, nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as variant of unknown significance. |
Labcorp Genetics |
RCV000587538 | SCV002217858 | benign | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350418 | SCV002653377 | uncertain significance | Cardiovascular phenotype | 2021-11-05 | criteria provided, single submitter | clinical testing | The p.R1897Q variant (also known as c.5690G>A), located in coding exon 41 of the ABCA1 gene, results from a G to A substitution at nucleotide position 5690. The arginine at codon 1897 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |