ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.2722C>T (p.Pro908Ser)

dbSNP: rs202149382
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001501853 SCV001706671 likely benign not provided 2023-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563338 SCV003696188 uncertain significance Inborn genetic diseases 2024-04-26 criteria provided, single submitter clinical testing The c.2722C>T (p.P908S) alteration is located in exon 21 (coding exon 21) of the AARS2 gene. This alteration results from a C to T substitution at nucleotide position 2722, causing the proline (P) at amino acid position 908 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001501853 SCV005201405 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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.