Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001860461 | SCV002254120 | uncertain significance | not provided | 2022-09-27 | 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TTLL5 protein function. ClinVar contains an entry for this variant (Variation ID: 522427). This variant has not been reported in the literature in individuals affected with TTLL5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 329 of the TTLL5 protein (p.Glu329Asp). |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625567 | SCV000746063 | likely pathogenic | Cone-rod dystrophy 19 | 2017-09-18 | no assertion criteria provided | clinical testing |