ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)

dbSNP: rs886044149
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000396619 SCV000343659 pathogenic not provided 2016-08-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000396619 SCV000942193 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn3062Lysfs*9) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acid(s) of the EYS protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 25356976). ClinVar contains an entry for this variant (Variation ID: 289313). 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.
Blueprint Genetics RCV001075567 SCV001241194 likely pathogenic Retinal dystrophy 2019-01-03 criteria provided, single submitter clinical testing
Mendelics RCV001828266 SCV002519624 pathogenic Retinitis pigmentosa 25 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001828266 SCV004192957 pathogenic Retinitis pigmentosa 25 2023-11-15 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001075567 SCV004707378 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV001828266 SCV005673227 likely pathogenic Retinitis pigmentosa 25 2024-03-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828266 SCV002083458 pathogenic Retinitis pigmentosa 25 2021-08-13 no assertion criteria provided clinical testing

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