Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633708 | SCV000754975 | uncertain significance | Welander distal myopathy | 2022-11-30 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 528489). This variant has not been reported in the literature in individuals affected with TIA1-related conditions. This variant is present in population databases (rs556545503, gnomAD 0.02%). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 361 of the TIA1 protein (p.Gln361Pro). |