Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000638159 | SCV000759645 | uncertain significance | Charcot-Marie-Tooth disease, type I | 2022-07-11 | criteria provided, single submitter | clinical testing | 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. 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 C15"). ClinVar contains an entry for this variant (Variation ID: 531682). This variant has not been reported in the literature in individuals affected with MPZ-related conditions. This variant is present in population databases (rs749459367, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 72 of the MPZ protein (p.Gly72Trp). |
| Ambry Genetics | RCV002424408 | SCV002727175 | uncertain significance | Inborn genetic diseases | 2020-10-12 | criteria provided, single submitter | clinical testing | The p.G72W variant (also known as c.214G>T), located in coding exon 2 of the MPZ gene, results from a G to T substitution at nucleotide position 214. The glycine at codon 72 is replaced by tryptophan, an amino acid with highly dissimilar 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. |