Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV002510238 | SCV002819140 | uncertain significance | Vitelliform macular dystrophy 4 | 2023-01-11 | criteria provided, single submitter | clinical testing | The variant c.2362G>T (p.(Glu788*)) in exon 17 of the IMPG1 gene is not found in the gnomAD database and it changes the protein sequence at position 788 and interrupts the reading frame prematurely by generating a STOP codon. As the variant most likely removes <10% of the protein, ACMG criterion PVS1_mod is applied. This variant was identified in a patient with a clinical diagnosis of Stargardt disease, who also carried two pathogenic ABCA4 mutations and one disease associated variant in ABCA4 (c.2588G>C (p.(Gly863Ala)), c.5882G>A (p.(Gly1961Glu)) and c.5603A>T (p.(Asn1868Ile)), respectively). ACMG criteria used for classification: PVS1_mod, PM2. |