Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001041203 | SCV001204805 | uncertain significance | Gastrointestinal stromal tumor | 2023-09-10 | 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 PDGFRA protein function. ClinVar contains an entry for this variant (Variation ID: 839446). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 99 of the PDGFRA protein (p.Thr99Ala). |
| Ambry Genetics | RCV003160272 | SCV003912512 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing | The c.295A>G (p.T99A) alteration is located in exon 3 (coding exon 2) of the PDGFRA gene. This alteration results from a A to G substitution at nucleotide position 295, causing the threonine (T) at amino acid position 99 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV004570132 | SCV005055140 | uncertain significance | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 2024-03-20 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV004590040 | SCV005081217 | uncertain significance | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |