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

gnomAD frequency: 0.01285  dbSNP: rs62619924

Total submissions: 11

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, part of Exact Sciences	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	2023-10-26	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	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	2024-01-31	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
Fulgent Genetics, Fulgent Genetics	RCV002498464	SCV002808580	benign	Leber congenital amaurosis 4; Retinitis pigmentosa	2022-04-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000086223	SCV003917880	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	AIPL1: BP4, BS1, BS2
Retina International	RCV000086223	SCV000118368	not provided	not provided		no assertion provided	not provided