ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.78_79dup (p.Gln27fs)

gnomAD frequency: 0.00002  dbSNP: rs1352380841
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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 RCV001389959 SCV001591520 pathogenic not provided 2020-11-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 21069908). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln27Argfs*16) 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).
Baylor Genetics RCV003469562 SCV004193542 likely pathogenic Retinitis pigmentosa 25 2023-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003469562 SCV005672771 pathogenic Retinitis pigmentosa 25 2024-06-13 criteria provided, single submitter clinical testing

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