ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)

dbSNP: rs1409801782
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073496 SCV001239039 pathogenic Retinal dystrophy 2019-04-05 criteria provided, single submitter clinical testing
Invitae RCV001382259 SCV001580939 pathogenic not provided 2023-09-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Lys3128Argfs*7) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acid(s) of the EYS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 29550188, 30153090). ClinVar contains an entry for this variant (Variation ID: 865915). This variant disrupts a region of the EYS protein in which other variant(s) (p.Tyr3135*) have been determined to be pathogenic (PMID: 18976725, 30337596). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.
GeneDx RCV001382259 SCV004034449 likely pathogenic not provided 2023-03-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein extension, as the last 17 amino acids are replaced with 22 different amino acids; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30153090, 29550188, 33090715, 32728228)
Baylor Genetics RCV001833682 SCV004192911 pathogenic Retinitis pigmentosa 25 2023-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833682 SCV002083447 pathogenic Retinitis pigmentosa 25 2021-03-01 no assertion criteria provided clinical testing

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