ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.603A>C (p.Lys201Asn)

gnomAD frequency: 0.00001  dbSNP: rs748600834
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 RCV000807009 SCV000947034 uncertain significance Arginine:glycine amidinotransferase deficiency 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 201 of the GATM protein (p.Lys201Asn). This variant is present in population databases (rs748600834, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 651610). 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: "Benign"; 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.
GeneDx RCV001562106 SCV001784823 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing Reported in a patient with hypomyelinating leukodystrophy type 2 in the published literature who also had a variant in another gene that may have been responsible for the phenotype (Komachali et al., 2022); Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35794704)
Fulgent Genetics, Fulgent Genetics RCV002501087 SCV002813446 uncertain significance Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2021-11-17 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.