Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003034410 | SCV003324888 | uncertain significance | Welander distal myopathy | 2023-03-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with TIA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 133 of the TIA1 protein (p.Ser133Pro). ClinVar contains an entry for this variant (Variation ID: 2112168). 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. 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 disruptive. |