Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002960234 | SCV003670083 | uncertain significance | Inborn genetic diseases | 2022-12-28 | criteria provided, single submitter | clinical testing | The c.332C>G (p.P111R) alteration is located in exon 4 (coding exon 4) of the GANAB gene. This alteration results from a C to G substitution at nucleotide position 332, causing the proline (P) at amino acid position 111 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003730321 | SCV004539943 | uncertain significance | not provided | 2023-07-26 | criteria provided, single submitter | clinical testing | 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 GANAB protein function. ClinVar contains an entry for this variant (Variation ID: 2340079). This variant has not been reported in the literature in individuals affected with GANAB-related conditions. This variant is present in population databases (rs147598095, gnomAD 0.05%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 111 of the GANAB protein (p.Pro111Arg). 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, |
RCV005051242 | SCV005683968 | likely benign | Polycystic kidney disease 3 with or without polycystic liver disease | 2024-06-25 | criteria provided, single submitter | clinical testing |