ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)

gnomAD frequency: 0.00004  dbSNP: rs201400089
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 RCV001062879 SCV001227703 uncertain significance Glycine encephalopathy 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 366 of the AMT protein (p.Pro366Leu). This variant is present in population databases (rs201400089, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AMT-related conditions. ClinVar contains an entry for this variant (Variation ID: 857242). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AMT protein function. 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.
Ambry Genetics RCV004030471 SCV004895055 uncertain significance Inborn genetic diseases 2023-11-29 criteria provided, single submitter clinical testing The c.1097C>T (p.P366L) alteration is located in exon 9 (coding exon 9) of the AMT gene. This alteration results from a C to T substitution at nucleotide position 1097, causing the proline (P) at amino acid position 366 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001062879 SCV002081693 uncertain significance Glycine encephalopathy 2020-07-23 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.