Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002441324 | SCV002748252 | uncertain significance | Inborn genetic diseases | 2020-03-31 | criteria provided, single submitter | clinical testing | The p.G372R variant (also known as c.1114G>A), located in coding exon 12 of the ATL3 gene, results from a G to A substitution at nucleotide position 1114. The glycine at codon 372 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Neuberg Centre For Genomic Medicine, |
RCV004817028 | SCV005438989 | uncertain significance | Neuropathy, hereditary sensory, type 1F | 2023-07-22 | criteria provided, single submitter | clinical testing | The missense c.1114G>A p.Gly372Arg variant in ATL3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly372Arg variant is present with allele frequency of 0.0004% in gnomAD Exomes. This variant has been submitted to the ClinVar database as Uncertain Significance. Multiple lines of computational evidence Polyphen - Probably damaging, SIFT - Damaging and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. The reference amino acid at this position in ATL3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gly at position 372 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS. |