Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001954146 | SCV002238102 | uncertain significance | Arginine:glycine amidinotransferase deficiency | 2024-04-16 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 30 of the GATM protein (p.Gly30Arg). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 1461940). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 | RCV002370618 | SCV002685375 | uncertain significance | Inborn genetic diseases | 2017-06-20 | criteria provided, single submitter | clinical testing | The p.G30R variant (also known as c.88G>A), located in coding exon 2 of the GATM gene, results from a G to A substitution at nucleotide position 88. The glycine at codon 30 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002479596 | SCV002791849 | uncertain significance | Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 | 2021-09-16 | criteria provided, single submitter | clinical testing |