ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)

gnomAD frequency: 0.00001  dbSNP: rs1299355731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037794 SCV001201226 pathogenic not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2715*) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 836619). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003461437 SCV004195304 likely pathogenic Retinitis pigmentosa 25 2024-02-06 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890167 SCV004707415 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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