ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln)

gnomAD frequency: 0.00007  dbSNP: rs564049659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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 (formerly Invitae), Labcorp 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.

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