ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.-20C>T

gnomAD frequency: 0.00001  dbSNP: rs148124985
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 RCV001237034 SCV001409781 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-01-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 963062). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs148124985, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 80 of the ACD protein (p.Pro80Leu).
Ambry Genetics RCV003294121 SCV003999905 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The p.P80L variant (also known as c.239C>T), located in coding exon 1 of the ACD gene, results from a C to T substitution at nucleotide position 239. The proline at codon 80 is replaced by leucine, 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.