ClinVar Miner

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

gnomAD frequency: 0.01285  dbSNP: rs62619924
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) 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 Laboratory Services,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 RCV000086223 SCV000521102 benign not provided 2018-11-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22412862, 20981092, 17964524, 16272259, 15249368, 22334370, 10873396, 12374762, 27268253, 27535533, 26626312, 28939106)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000086223 SCV001158964 benign not provided 2020-02-16 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258272 SCV001435197 benign Lissencephaly due to TUBA1A mutation 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 (http://gnomad.broadinstitute.org/). 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 2021-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152750 SCV002548488 likely benign not specified 2022-05-03 criteria provided, single submitter clinical testing
Retina International RCV000086223 SCV000118368 not provided not provided no assertion provided not provided

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