Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001203106 | SCV001374253 | uncertain significance | Welander distal myopathy | 2022-07-12 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 934669). 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 alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 331 of the TIA1 protein (p.Ala331Val). |
| Ambry Genetics | RCV003346359 | SCV004075111 | uncertain significance | Inborn genetic diseases | 2023-06-22 | criteria provided, single submitter | clinical testing | The c.992C>T (p.A331V) alteration is located in exon 12 (coding exon 12) of the TIA1 gene. This alteration results from a C to T substitution at nucleotide position 992, causing the alanine (A) at amino acid position 331 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |