ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3349del (p.Ser1117fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept Of Ophthalmology, Nagoya University RCV003891067 SCV004707537 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV005101478 SCV005741468 pathogenic not provided 2024-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1117Alafs*46) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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