ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.476_481del (p.Gly159_Leu160del)

dbSNP: rs750251838
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998489 SCV002262790 uncertain significance Developmental and epileptic encephalopathy, 36 2022-07-06 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. ClinVar contains an entry for this variant (Variation ID: 1477970). This variant has not been reported in the literature in individuals affected with ALG13-related conditions. This variant is present in population databases (rs750251838, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This variant, c.476_481del, results in the deletion of 2 amino acid(s) of the ALG13 protein (p.Gly159_Leu160del), but otherwise preserves the integrity of the reading frame.

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.