ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6571+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1193854376
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059361 SCV001223985 likely pathogenic not provided 2021-11-08 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (PMID: 23591405). 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. ClinVar contains an entry for this variant (Variation ID: 854334). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change affects a donor splice site in intron 32 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).
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376419 SCV001573548 likely pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.6571+1G>A 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.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724220 SCV001950261 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The c.6571+1G>A variant in EYS was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PSV1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Baylor Genetics RCV001376419 SCV004195317 pathogenic Retinitis pigmentosa 25 2024-02-07 criteria provided, single submitter clinical testing
GeneDx RCV001059361 SCV005325234 pathogenic not provided 2024-03-16 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23591405, 34906470, 31964843, 32531858, 36460718)
Fulgent Genetics, Fulgent Genetics RCV001376419 SCV005673261 likely pathogenic Retinitis pigmentosa 25 2024-01-25 criteria provided, single submitter clinical testing

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