Submissions for variant NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)

dbSNP: rs992863438

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003388034	SCV004099701	pathogenic	Retinitis pigmentosa	2023-09-11	criteria provided, single submitter	clinical testing	Variant summary: EYS c.2308C>T (p.Gln770X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 153604 control chromosomes (gnomAD). c.2308C>T has been reported in the literature in at-least one individual affected with Retinitis Pigmentosa (example: Pierrache_2019). The following publication has been ascertained in the context of this evaluation (PMID: 31074760). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics	RCV003463059	SCV004195308	pathogenic	Retinitis pigmentosa 25	2023-04-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV003463059	SCV005670631	pathogenic	Retinitis pigmentosa 25	2024-02-13	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699706	SCV001920250	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699706	SCV001959058	pathogenic	not provided		no assertion criteria provided	clinical testing