Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697567 | SCV000826186 | uncertain significance | Welander distal myopathy | 2022-11-01 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (ALS) (PMID: 28817800). This variant is present in population databases (rs144296151, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 294 of the TIA1 protein (p.Val294Met). ClinVar contains an entry for this variant (Variation ID: 575375). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. |