Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002552032 | SCV003271825 | uncertain significance | not provided | 2023-07-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ANLN-related conditions. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 64 of the ANLN protein (p.Pro64Arg). This variant is present in population databases (rs200238245, gnomAD 0.02%). ClinVar contains an entry for this variant (Variation ID: 829977). 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 tolerated. 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. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029937 | SCV001192733 | uncertain significance | Focal segmental glomerulosclerosis 8 | 2019-11-18 | no assertion criteria provided | clinical testing |