Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000296610 | SCV000352002 | uncertain significance | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001859771 | SCV002147469 | uncertain significance | not provided | 2023-03-08 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 294311). This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. This variant is present in population databases (rs771757920, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 5585 of the HMCN1 protein (p.Glu5585Ala). |
Genome- |
RCV003454838 | SCV004180657 | uncertain significance | Age related macular degeneration 1 | 2023-04-11 | criteria provided, single submitter | clinical testing |