ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002628961 SCV003516256 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 129 of the ACD protein (p.Ala129Gly). This variant is present in population databases (rs752683720, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ACD-related conditions. ClinVar contains an entry for this variant (Variation ID: 2195811). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003162029 SCV003890441 uncertain significance Inborn genetic diseases 2022-11-13 criteria provided, single submitter clinical testing The p.A129G variant (also known as c.386C>G), located in coding exon 2 of the ACD gene, results from a C to G substitution at nucleotide position 386. The alanine at codon 129 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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 alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.