Submissions for variant NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)

gnomAD frequency: 0.00076  dbSNP: rs150951106

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000666256	SCV000790516	uncertain significance	Retinitis pigmentosa 25	2017-03-27	criteria provided, single submitter	clinical testing
Invitae	RCV000132623	SCV001047575	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001159868	SCV001321614	uncertain significance	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Dept Of Ophthalmology, Nagoya University	RCV003888553	SCV004707533	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV003905240	SCV004718810	likely benign	EYS-related condition	2019-06-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132623	SCV000172574	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.