ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.419C>T (p.Ala140Val)

gnomAD frequency: 0.00002  dbSNP: rs373025706
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445340 SCV000530463 uncertain significance not provided 2016-07-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALG13 gene. The A140V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 5,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The A140V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003651831 SCV004519558 benign Developmental and epileptic encephalopathy, 36 2024-01-17 criteria provided, single submitter 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.