ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6191+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1048032321
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808029 SCV002058413 likely pathogenic Retinitis pigmentosa 25 2022-01-03 criteria provided, single submitter clinical testing Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869579 SCV002232021 pathogenic not provided 2022-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change affects a donor 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (PMID: 29159838; Invitae). ClinVar contains an entry for this variant (Variation ID: 1333341). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Baylor Genetics RCV001808029 SCV004193536 pathogenic Retinitis pigmentosa 25 2023-02-02 criteria provided, single submitter clinical testing

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