ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)

dbSNP: rs281865195
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001517242 SCV001725712 benign Leber congenital amaurosis 4 2020-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000086210 SCV001782366 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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,BGI Genomics 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.

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