Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000567637 | SCV000672455 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | The p.R119W variant (also known as c.355C>T), located in coding exon 3 of the AIP gene, results from a C to T substitution at nucleotide position 355. The arginine at codon 119 is replaced by tryptophan, an amino acid with dissimilar properties. In a study of Han Chinese patients with pituitary adenomas, this variant was observed in 1/216 sporadic pituitary adenoma patients and was not seen in the 6 familial pituitary adenoma families or in 100 unrelated healthy controls. This patient was 32 year old female diagnosed with an aggressive growth hormone secreting adenoma (Cai F et al. Eur. J. Endocrinol. 2013 Dec;169:867-84). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001214293 | SCV001385968 | uncertain significance | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 119 of the AIP protein (p.Arg119Trp). This variant is present in population databases (rs368933035, gnomAD 0.007%). This missense change has been observed in individual(s) with pituitary adenoma (PMID: 24050928). ClinVar contains an entry for this variant (Variation ID: 485072). 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. 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. |
| Fulgent Genetics, |
RCV002476243 | SCV002788505 | uncertain significance | Pituitary dependent hypercortisolism; Somatotroph adenoma | 2021-12-17 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003465254 | SCV004195227 | uncertain significance | Somatotroph adenoma | 2024-03-22 | criteria provided, single submitter | clinical testing |