ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2889T>A (p.Cys963Ter)

gnomAD frequency: 0.00001  dbSNP: rs989589885
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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 RCV001045154 SCV001208989 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 842696). This premature translational stop signal has been observed in individual(s) with retinal degeneration (PMID: 28704921). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Cys963*) 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 RCV003462531 SCV004195210 pathogenic Retinitis pigmentosa 25 2023-08-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274888 SCV001459438 pathogenic Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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