ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2641+2T>C

gnomAD frequency: 0.00001  dbSNP: rs960578029
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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 RCV001376874 SCV001574060 pathogenic not provided 2022-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 1065997). Disruption of this splice site has been observed in individuals with clinical features of retinitis pigmentosa (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change affects a donor splice site in intron 16 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).
Natera, Inc. RCV001836382 SCV002084447 likely pathogenic Retinitis pigmentosa 25 2021-06-25 no assertion criteria provided clinical testing

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