ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.910dup (p.Trp304fs)

dbSNP: rs34676630
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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 RCV001212145 SCV001383721 pathogenic not provided 2023-08-04 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: 942205). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 28419563). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp304Leufs*9) 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 RCV004570461 SCV005060482 pathogenic Retinitis pigmentosa 25 2024-02-07 criteria provided, single submitter clinical testing
Faculty of Health Sciences, Beirut Arab University RCV001257884 SCV001434635 pathogenic Autosomal recessive retinitis pigmentosa 2018-04-16 no assertion criteria provided literature only

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