ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)

gnomAD frequency: 0.00021  dbSNP: rs200625964
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597749 SCV000704801 uncertain significance not provided 2016-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315891 SCV000848249 likely benign Inborn genetic diseases 2017-12-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000597749 SCV003459075 uncertain significance not provided 2023-05-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 355 of the ADNP protein (p.Ala355Thr). This variant is present in population databases (rs200625964, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. 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. 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. ClinVar contains an entry for this variant (Variation ID: 499359). This variant has not been reported in the literature in individuals affected with ADNP-related conditions.
PreventionGenetics, part of Exact Sciences RCV003945402 SCV004766169 likely benign ADNP-related condition 2022-11-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.