Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001266309 | SCV001444482 | uncertain significance | Inborn genetic diseases | 2018-09-11 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001751533 | SCV002005366 | uncertain significance | not provided | 2019-04-09 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
| Fulgent Genetics, |
RCV002499456 | SCV002776803 | uncertain significance | Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 | 2021-07-19 | criteria provided, single submitter | clinical testing | |
| Neuberg Centre For Genomic Medicine, |
RCV003339571 | SCV004047324 | uncertain significance | Fanconi renotubular syndrome 1 | criteria provided, single submitter | clinical testing | The c.911T>C (p.Ile304Thr) missense variant in GATM gene has been submitted to ClinVar as a Variant of Uncertain Significance, but no details are available for independent assessment. It has not been reported in affected individuals. The p.Ile304Thr variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ile at position 304 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ile304Thr in GATM is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). | |
| Institute of Metabolism and Integrative Biology, |
RCV003339571 | SCV005420917 | likely pathogenic | Fanconi renotubular syndrome 1 | no assertion criteria provided | clinical testing | The Ile304Thr variant carried by the subject is a missense variant in the coding region of the GATM gene. The analysis of family NGS data showed that this variant was not detected in the peripheral blood samples of the parents of the subject, and it was considered to be a de novo variant. This variant has not been reported in the literature or in the large-scale population frequency database, gnomAD. Based on the available evidence, this variant is defined as a likely pathogenic variant. |