ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5530_5534dup (p.Val1846fs)

dbSNP: rs1405016852
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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 RCV001931795 SCV002210593 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1846Leufs*35) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1437069). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003485750 SCV004238182 likely pathogenic Retinitis pigmentosa 25 2023-05-25 criteria provided, single submitter clinical testing

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