ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.292C>T (p.Arg98Trp)

gnomAD frequency: 0.00003  dbSNP: rs765070826
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514101 SCV000589406 uncertain significance not provided 2024-11-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514101 SCV000609769 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000514101 SCV000842122 uncertain significance not provided 2019-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318602 SCV000851343 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.292C>T (p.R98W) alteration is located in exon 2 (coding exon 2) of the GAMT gene. This alteration results from a C to T substitution at nucleotide position 292, causing the arginine (R) at amino acid position 98 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001244364 SCV001417578 uncertain significance Cerebral creatine deficiency syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 98 of the GAMT protein (p.Arg98Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GAMT-related conditions. ClinVar contains an entry for this variant (Variation ID: 431854). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Natera, Inc. RCV001275206 SCV001460085 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-01-24 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.