ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)

gnomAD frequency: 0.00025  dbSNP: rs201566142
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000173236 SCV000166967 benign not specified 2014-01-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000173236 SCV000224331 likely benign not specified 2014-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000468162 SCV000561545 benign Pyridoxine-dependent epilepsy 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312543 SCV000847186 likely benign Inborn genetic diseases 2016-07-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Athena Diagnostics RCV000173236 SCV001476894 benign not specified 2024-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000468162 SCV004050476 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430685 SCV004159283 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ALDH7A1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003925227 SCV004746897 likely benign ALDH7A1-related disorder 2019-04-26 no assertion criteria provided 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.