ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.-453G>T

dbSNP: rs1769909552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075384 SCV001241006 uncertain significance Retinal dystrophy 2018-07-10 criteria provided, single submitter clinical testing
Invitae RCV001862848 SCV002317544 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the EYS gene. It does not change the encoded amino acid sequence of the EYS protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 866963). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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