ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6192-1G>T

gnomAD frequency: 0.00002  dbSNP: rs570020451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234946 SCV001407607 likely pathogenic not provided 2022-05-06 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. ClinVar contains an entry for this variant (Variation ID: 961276). Disruption of this splice site has been observed in individual(s) with clinical features of EYS-related conditions (Invitae). This variant is present in population databases (rs570020451, gnomAD 0.009%). This sequence change affects an acceptor splice site in intron 30 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).
Revvity Omics, Revvity RCV001834035 SCV003832408 likely pathogenic Retinitis pigmentosa 25 2022-09-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001834035 SCV005060454 pathogenic Retinitis pigmentosa 25 2024-03-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834035 SCV002084325 likely pathogenic Retinitis pigmentosa 25 2020-10-13 no assertion criteria provided clinical testing

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