ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7578+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1228475082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051367 SCV001215518 pathogenic not provided 2023-07-26 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: 847758). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (PMID: 29550188; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change affects a donor splice site in intron 38 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).
Blueprint Genetics RCV001075353 SCV001240974 likely pathogenic Retinal dystrophy 2018-05-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036341 SCV005673251 likely pathogenic Retinitis pigmentosa 25 2024-04-05 criteria provided, single submitter clinical testing

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