Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001517242 | SCV001725712 | benign | Leber congenital amaurosis 4 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000086210 | SCV001782366 | likely benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002222344 | SCV002500342 | uncertain significance | not specified | 2022-03-12 | criteria provided, single submitter | clinical testing | Variant summary: AIPL1 c.1053_1064del12 (p.Ala352_Pro355del) results in an in-frame deletion that is predicted to remove four amino acids from the encoded protein. The variant allele was found at a frequency of 0.00087 in 250120 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in AIPL1 causing Leber Congenital Amaurosis (0.00087 vs 0.0011), allowing no conclusion about variant significance. Although reported in the literature, as unlikely to be associated with autosomal dominant Inherited Retinal Degeneration (example, Hanany_2019), to our knowledge, no penetrant association of c.1053_1064del12 in individuals affected with Autosomal Recessive Leber Congenital Amaurosis and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign/benign, n=2; VUS, n=1). Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
OMIM | RCV000005909 | SCV000026091 | pathogenic | Juvenile retinitis pigmentosa, AIPL1-related | 2000-06-01 | no assertion criteria provided | literature only | |
OMIM | RCV000005910 | SCV000026092 | pathogenic | CONE-ROD DYSTROPHY, AIPL1-RELATED | 2000-06-01 | no assertion criteria provided | literature only | |
Retina International | RCV000086210 | SCV000118354 | not provided | not provided | no assertion provided | not provided | ||
Reproductive Health Research and Development, |
RCV000005910 | SCV001142467 | uncertain significance | CONE-ROD DYSTROPHY, AIPL1-RELATED | 2020-01-06 | no assertion criteria provided | curation | NM_014336.3:c.1053_1064delTGCAGAGCCACC in the AIPL1 gene has an allele frequency of 0.01 in Ashkenazi Jewish subpopulation in the gnomAD database. It has been detected in two individuals with cone-rod dystrophy (PMID: 10873396). This in-frame deletion happens in a repetitive region without known function. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BP3, PP4. |