ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)

dbSNP: rs398123576
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178517 SCV000230612 pathogenic not provided 2013-09-10 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074553 SCV001240144 pathogenic Retinal dystrophy 2018-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000178517 SCV001591317 pathogenic not provided 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2803Lysfs*9) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 342 amino acid(s) of the EYS protein. This variant is present in population databases (rs398123576, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 23591405, 28704921; Invitae). ClinVar contains an entry for this variant (Variation ID: 93622). 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.
Mendelics RCV002247476 SCV002519634 pathogenic Retinitis pigmentosa 25 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV002247476 SCV004192895 pathogenic Retinitis pigmentosa 25 2023-10-10 criteria provided, single submitter clinical testing

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