ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.521G>T (p.Trp174Leu)

dbSNP: rs200444143
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 RCV001240673 SCV001413642 uncertain significance Cerebral creatine deficiency syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with leucine at codon 174 of the GAMT protein (p.Trp174Leu). The tryptophan residue is highly conserved and there is a small physicochemical difference between tryptophan and leucine. This variant is present in population databases (rs200444143, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with GAMT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782681 SCV005394401 uncertain significance not specified 2024-09-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828958 SCV002087017 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-01-10 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.