Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002538891 | SCV003444176 | uncertain significance | Charcot-Marie-Tooth disease type 4A | 2022-11-14 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 307 of the GDAP1 protein (p.Thr307Ala). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 695008). This variant has not been reported in the literature in individuals affected with GDAP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). |
Genesis Genome Database | RCV000857210 | SCV000999794 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research |