Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001352339 | SCV001546886 | uncertain significance | not provided | 2023-08-01 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1047603). This variant has not been reported in the literature in individuals affected with AIP-related conditions. This variant is present in population databases (rs758681469, gnomAD 0.002%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 107 of the AIP protein (p.Asn107Asp). |
| Ambry Genetics | RCV002447440 | SCV002612351 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-05 | criteria provided, single submitter | clinical testing | The p.N107D variant (also known as c.319A>G), located in coding exon 3 of the AIP gene, results from an A to G substitution at nucleotide position 319. The asparagine at codon 107 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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. |
| Baylor Genetics | RCV004570860 | SCV005059465 | uncertain significance | Somatotroph adenoma | 2024-03-09 | criteria provided, single submitter | clinical testing |