Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV000086209 | SCV001447664 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000005907 | SCV002243160 | pathogenic | Leber congenital amaurosis 4 | 2022-02-10 | criteria provided, single submitter | clinical testing | This frameshift has been observed in individual(s) with Leber congenital amaurosis (PMID: 10615133; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the AIPL1 gene (p.Glu337Alafs*70). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the AIPL1 protein and extend the protein by 21 additional amino acid residues. This variant is also known as Ala336Δ2 bp. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000005907 | SCV000026089 | pathogenic | Leber congenital amaurosis 4 | 2000-01-01 | no assertion criteria provided | literature only | |
Retina International | RCV000086209 | SCV000118353 | not provided | not provided | no assertion provided | not provided |