Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001067843 | SCV001232924 | uncertain significance | Giant axonal neuropathy 1 | 2022-05-22 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 395 of the GAN protein (p.Asp395Asn). This variant is present in population databases (rs142456623, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GAN-related conditions. ClinVar contains an entry for this variant (Variation ID: 861336). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 | RCV002327352 | SCV002633537 | uncertain significance | Inborn genetic diseases | 2020-10-19 | criteria provided, single submitter | clinical testing | The p.D395N variant (also known as c.1183G>A), located in coding exon 7 of the GAN gene, results from a G to A substitution at nucleotide position 1183. The aspartic acid at codon 395 is replaced by asparagine, an amino acid with highly similar properties. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |