ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3165-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1349089552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205737 SCV001377008 likely pathogenic not provided 2023-11-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 20 of the EYS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). This variant is present in population databases (no rsID available, gnomAD 0.006%). Disruption of this splice site has been observed in individual(s) with inherited retinal dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 936845). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV001833806 SCV002084421 likely pathogenic Retinitis pigmentosa 25 2020-06-05 no assertion criteria provided clinical testing

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