ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5958_5961del (p.Thr1987fs)

dbSNP: rs1561965266
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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 RCV001038506 SCV001201976 pathogenic not provided 2022-06-20 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: 837224). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Thr1987Phefs*2) 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).
Fulgent Genetics, Fulgent Genetics RCV005036311 SCV005670586 pathogenic Retinitis pigmentosa 25 2024-03-06 criteria provided, single submitter clinical testing

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