ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2021_2023+1dup

dbSNP: rs2150286198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376317 SCV001573420 likely pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.2021_2023+1dup variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001865897 SCV002309995 likely pathogenic not provided 2021-06-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1065701). This variant is not present in population databases (ExAC no frequency). This sequence change affects a splice site in intron 12 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).

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