Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001066636 | SCV001231651 | uncertain significance | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the RGR gene (p.Ile276Asnfs*78). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the RGR protein and extend the protein by 61 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individual(s) with inherited retinal dystrophy (PMID: 10581022, 28041643, 28838317, 30347075). It has also been observed to segregate with disease in related individuals. This variant is also known as Gly275(1-bp ins) or p.Ile280AsnfsTer78 or p.I276N*77. ClinVar contains an entry for this variant (Variation ID: 860352). 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. |
OMIM | RCV000009760 | SCV000029981 | pathogenic | Retinitis pigmentosa 44 | 1999-12-01 | no assertion criteria provided | literature only |