Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000643971 | SCV000765658 | uncertain significance | Charcot-Marie-Tooth disease type 4A | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 87 of the GDAP1 protein (p.Ile87Thr). This variant is present in population databases (rs751297226, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with GDAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 535792). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 | RCV002440301 | SCV002745556 | uncertain significance | Inborn genetic diseases | 2019-11-28 | criteria provided, single submitter | clinical testing | The p.I87T variant (also known as c.260T>C), located in coding exon 2 of the GDAP1 gene, results from a T to C substitution at nucleotide position 260. The isoleucine at codon 87 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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. |