Submissions for variant NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)

gnomAD frequency: 0.01062  dbSNP: rs75831552

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124938	SCV000168378	benign	not provided	2011-07-18	criteria provided, single submitter	clinical testing	The variant is found in ARRP panel(s).
Invitae	RCV000124938	SCV001113006	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000987726	SCV001137160	benign	Retinitis pigmentosa 25	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001164680	SCV001326821	benign	Retinitis pigmentosa	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002222399	SCV002500603	benign	not specified	2022-03-23	criteria provided, single submitter	clinical testing	Variant summary: EYS c.5044G>T (p.Asp1682Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0023 in 151936 control chromosomes, predominantly at a frequency of 0.036 within the African or African-American subpopulation in the gnomAD database, including 6 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 11 fold of the estimated maximal expected allele frequency for a pathogenic variant in EYS causing Retinitis Pigmentosa phenotype (0.0034), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Natera, Inc.	RCV000987726	SCV002084362	likely benign	Retinitis pigmentosa 25	2019-10-31	no assertion criteria provided	clinical testing