ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)

dbSNP: rs1554163919
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585137 SCV000693213 likely pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199692 SCV001162507 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Invitae RCV000585137 SCV003786476 pathogenic not provided 2022-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EYS protein in which other variant(s) (p.Tyr3135*) have been determined to be pathogenic (PMID: 18976725, 29159838, 30337596, 31074760). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 493434). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 30543658). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2931Hisfs*43) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 214 amino acid(s) of the EYS protein.
Baylor Genetics RCV000735708 SCV004192868 pathogenic Retinitis pigmentosa 25 2023-10-25 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889927 SCV004707392 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735708 SCV000863856 pathogenic Retinitis pigmentosa 25 2018-04-30 no assertion criteria provided clinical testing

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