ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) (rs62619924)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152750 SCV000202137 benign not specified 2014-01-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152750 SCV000312136 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322310 SCV000405623 likely benign Leber congenital amaurosis 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000152750 SCV000521102 likely benign not specified 2017-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282283 SCV001158964 benign none provided 2020-02-16 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258272 SCV001435197 benign Lissencephaly 3 criteria provided, single submitter research The heterozygous p.Val96Ile variant in AIPL1 has been identified in an individual with Leber congenital amaurosis (PMID: 10873396), but has also been identified in >2% of European (non-Finnish) chromosomes and 19 homozygotes by ExAC ( In summary, this variant meets criteria to be classified as benign for autosomal recessive Leber congenital amaurosis.
Invitae RCV000322310 SCV001733106 benign Leber congenital amaurosis 4 2020-11-27 criteria provided, single submitter clinical testing
Retina International RCV000086223 SCV000118368 not provided not provided no assertion provided not provided

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