Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001239518 | SCV001412394 | uncertain significance | Giant axonal neuropathy 1 | 2022-07-29 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 572 of the GAN protein (p.Ala572Gly). This variant is present in population databases (rs778978997, gnomAD 0.03%). 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: 965148). 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: "Benign"; 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 | RCV002402757 | SCV002713573 | uncertain significance | Inborn genetic diseases | 2021-03-12 | criteria provided, single submitter | clinical testing | The p.A572G variant (also known as c.1715C>G), located in coding exon 11 of the GAN gene, results from a C to G substitution at nucleotide position 1715. The alanine at codon 572 is replaced by glycine, an amino acid with similar properties. This amino acid position is well 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. |