Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026039 | SCV001188345 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-12 | criteria provided, single submitter | clinical testing | The p.E24Q variant (also known as c.70G>C), located in coding exon 1 of the AIP gene, results from a G to C substitution at nucleotide position 70. The glutamic acid at codon 24 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001305281 | SCV001494610 | uncertain significance | not provided | 2023-12-23 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 24 of the AIP protein (p.Glu24Gln). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AIP-related conditions. ClinVar contains an entry for this variant (Variation ID: 826838). 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 AIP protein function with a negative predictive value of 80%. 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. |
Sema4, |
RCV001026039 | SCV002535451 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-18 | criteria provided, single submitter | curation | |
Baylor Genetics | RCV003461414 | SCV004195249 | uncertain significance | Somatotroph adenoma | 2023-10-22 | criteria provided, single submitter | clinical testing |