Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554435 | SCV000644060 | uncertain significance | Charcot-Marie-Tooth disease type 4A | 2022-07-24 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 336 of the GDAP1 protein (p.Ala336Ser). This variant is present in population databases (rs140811185, gnomAD 0.01%). 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: 467754). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GDAP1 protein function. 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. |
Fulgent Genetics, |
RCV000764780 | SCV000895923 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000554435 | SCV001524558 | uncertain significance | Charcot-Marie-Tooth disease type 4A | 2020-08-12 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Mayo Clinic Laboratories, |
RCV001507739 | SCV001713474 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | BP5 |
Genome |
RCV003483664 | SCV004228611 | not provided | Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Autosomal dominant Charcot-Marie-Tooth disease type 2K | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 09-08-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |