ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro)

gnomAD frequency: 0.00166  dbSNP: rs142841538
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
Invitae RCV001081461 SCV000554233 benign Developmental and epileptic encephalopathy, 36 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000602046 SCV000730812 benign not specified 2017-02-09 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.
Ambry Genetics RCV002311774 SCV000846516 benign Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing This alteration is classified as 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.
Athena Diagnostics Inc RCV000456721 SCV001142982 likely benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001081461 SCV002524932 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932717 SCV004753138 likely benign ALG13-related condition 2019-03-01 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000456721 SCV001930804 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000456721 SCV001975191 likely benign not provided no assertion criteria provided clinical testing

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.