Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002756745 | SCV003024706 | uncertain significance | not provided | 2022-03-19 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1293 of the PIEZO2 protein (p.Ile1293Thr). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PIEZO2 protein function. This variant has not been reported in the literature in individuals affected with PIEZO2-related conditions. This variant is present in population databases (rs754312134, gnomAD 0.008%). |
| Ambry Genetics | RCV003250591 | SCV003937491 | uncertain significance | Inborn genetic diseases | 2023-04-25 | criteria provided, single submitter | clinical testing | The c.3878T>C (p.I1293T) alteration is located in exon 26 (coding exon 26) of the PIEZO2 gene. This alteration results from a T to C substitution at nucleotide position 3878, causing the isoleucine (I) at amino acid position 1293 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |