ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp)

gnomAD frequency: 0.00003  dbSNP: rs144590741
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189491 SCV000243134 likely benign not specified 2015-06-10 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.
Invitae RCV001034033 SCV001197358 benign Early infantile epileptic encephalopathy with suppression bursts 2023-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311025 SCV001501045 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SPTAN1: PP2, BS2
Genome-Nilou Lab RCV001808509 SCV002056636 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381640 SCV002702120 benign Inborn genetic diseases 2019-10-15 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.

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.