Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV000788626 | SCV000927804 | uncertain significance | not provided | 2018-07-17 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000788626 | SCV002130498 | uncertain significance | not provided | 2023-01-30 | 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. 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 TCF3 protein function. ClinVar contains an entry for this variant (Variation ID: 636717). This variant has not been reported in the literature in individuals affected with TCF3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 203 of the TCF3 protein (p.Ala203Thr). |
| 3billion | RCV004723177 | SCV005328850 | likely benign | Agammaglobulinemia 8b, autosomal recessive | 2024-09-20 | criteria provided, single submitter | clinical testing | The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant. |