Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223494 | SCV001395646 | pathogenic | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 162135). This premature translational stop signal has been observed in individual(s) with autosomal recessive macular dystrophy (PMID: 23993198). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs367576664, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg507*) in the IMPG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IMPG1 are known to be pathogenic (PMID: 23993198). |
OMIM | RCV000149549 | SCV000196506 | pathogenic | Vitelliform macular dystrophy 4 | 2013-09-05 | no assertion criteria provided | literature only |