ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.553A>C (p.Ile185Leu)

gnomAD frequency: 0.00001  dbSNP: rs757108273
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 RCV000552376 SCV000659569 uncertain significance Cerebral creatine deficiency syndrome 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 185 of the GAMT protein (p.Ile185Leu). This variant is present in population databases (rs757108273, gnomAD 0.003%). 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: 478016). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV004619345 SCV005122979 uncertain significance Inborn genetic diseases 2024-05-16 criteria provided, single submitter clinical testing The c.553A>C (p.I185L) alteration is located in exon 5 (coding exon 5) of the GAMT gene. This alteration results from a A to C substitution at nucleotide position 553, causing the isoleucine (I) at amino acid position 185 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001275202 SCV001460079 uncertain significance Deficiency of guanidinoacetate methyltransferase 2019-10-28 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.