Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035262 | SCV001198585 | uncertain significance | Welander distal myopathy | 2023-04-28 | 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 present in population databases (rs752969561, gnomAD 0.03%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 370 of the TIA1 protein (p.Met370Val). ClinVar contains an entry for this variant (Variation ID: 834552). 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 tolerated. |