Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000573085 | SCV000672433 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-20 | criteria provided, single submitter | clinical testing | Insufficient evidence |
| Fulgent Genetics, |
RCV000765006 | SCV000896189 | uncertain significance | Acroleukopathy, symmetric; Pituitary dependent hypercortisolism; Somatotroph adenoma | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001202575 | SCV001373691 | uncertain significance | not provided | 2019-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 276 of the AIP protein (p.Ala276Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs61741147, ExAC 0.01%). This variant has not been reported in the literature in individuals with AIP-related conditions. ClinVar contains an entry for this variant (Variation ID: 485056). This variant has been reported to affect AIP protein function (PMID: 27253664). 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. |