ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4557del (p.Ala1520fs)

dbSNP: rs768092887
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953452 SCV002242762 pathogenic not provided 2022-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1520Profs*30) 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 (rs768092887, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with EYS-related conditions (PMID: 26161267). ClinVar contains an entry for this variant (Variation ID: 1456826). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471176 SCV004193513 pathogenic Retinitis pigmentosa 25 2023-03-19 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888943 SCV004707504 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV003471176 SCV005670606 likely pathogenic Retinitis pigmentosa 25 2024-01-05 criteria provided, single submitter clinical testing

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