ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.-448+5G>A

gnomAD frequency: 0.00002  dbSNP: rs1175129177
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073473 SCV001239016 uncertain significance Retinal dystrophy 2019-03-11 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376422 SCV001573551 uncertain significance Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.-448+5G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PM3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002554664 SCV003439496 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the EYS gene. It does not directly change the encoded amino acid sequence of the EYS protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has been observed in individual(s) with EYS-related conditions (PMID: 24265693). ClinVar contains an entry for this variant (Variation ID: 865902). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV001376422 SCV004192953 likely pathogenic Retinitis pigmentosa 25 2024-02-09 criteria provided, single submitter clinical testing

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