ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs)

dbSNP: rs1216993077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
INSERM U1051, Institut des Neurosciences de Montpellier RCV001249878 SCV001424153 likely pathogenic Retinitis pigmentosa 2020-06-24 criteria provided, single submitter research
Invitae RCV002570408 SCV002972329 pathogenic not provided 2022-04-11 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asn2855Lysfs*5) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 290 amino acid(s) of the EYS protein. 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: 973363). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469479 SCV004193554 likely pathogenic Retinitis pigmentosa 25 2022-12-03 criteria provided, single submitter clinical testing

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