ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)

gnomAD frequency: 0.00003  dbSNP: rs763028732
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668210 SCV000792776 likely pathogenic Retinitis pigmentosa 25 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000814959 SCV000955398 pathogenic not provided 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2805Asnfs*7) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 340 amino acid(s) of the EYS protein. This variant is present in population databases (rs763028732, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 29550188). ClinVar contains an entry for this variant (Variation ID: 552866). This variant disrupts a region of the EYS protein in which other variant(s) (p.Val3096Leufs*28) have been determined to be pathogenic (PMID: 24474277, 26261414, 29550188). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000668210 SCV001573648 pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.8411dup variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PS1. Based on this evidence we have classified this variant as Pathogenic.
Mendelics RCV000668210 SCV002519633 pathogenic Retinitis pigmentosa 25 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000668210 SCV002781676 likely pathogenic Retinitis pigmentosa 25 2022-04-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000668210 SCV003823922 pathogenic Retinitis pigmentosa 25 2022-10-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668210 SCV004195248 likely pathogenic Retinitis pigmentosa 25 2023-07-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000668210 SCV002083487 pathogenic Retinitis pigmentosa 25 2020-07-24 no assertion criteria provided clinical testing

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