ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer)

dbSNP: rs1764940309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052987 SCV001217227 pathogenic not provided 2022-02-24 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: 849100). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 20333770). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1001*) 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 RCV003462556 SCV004195309 likely pathogenic Retinitis pigmentosa 25 2023-04-12 criteria provided, single submitter clinical testing

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