Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000440799 | SCV000523750 | uncertain significance | not provided | 2016-02-25 | criteria provided, single submitter | clinical testing | The C110Y variant in the AVP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C110Y variant was not observed in approximately 3,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C110Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C110Y as a variant of uncertain significance. |
| DASA | RCV002051851 | SCV002318956 | likely pathogenic | Diabetes insipidus | 2022-03-25 | criteria provided, single submitter | clinical testing | The c.329G>A;p.(Cys110Tyr) missense change has been observed in affected individual(s) (PMID: 28008190)-PS4_supporting. The variant is located in a mutational hot spot and/or critical and well-established functional domain (Hormone_5) - PM1. This variant is not present in population databases (rs1057521601- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br.) - PM2. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is likely pathogenic |
| Clinical Genomics, |
RCV003884524 | SCV004698132 | uncertain risk allele | Neurohypophyseal diabetes insipidus | criteria provided, single submitter | research | Potent mutations in AVP gene can lead to decreased production of Anti Diuretic hormone which leads to central Diabetes insipidus.This particular variant rs1057521601 can predispose Familial Neurohypophysial Diabetes Insipidus (FNDI) and strength of predisposition is yet to be studied |