ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2023+5G>T

dbSNP: rs1287889008
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047358 SCV001211310 likely pathogenic not provided 2023-08-14 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 636024). This variant has been observed in individuals with retinitis pigmentosa (PMID: 30718709; Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change falls in intron 12 of the EYS gene. It does not directly change the encoded amino acid sequence of the EYS protein. It affects a nucleotide within the consensus splice site.
DBGen Ocular Genomics RCV001592964 SCV001816112 uncertain significance Retinitis pigmentosa 25 2021-06-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001592964 SCV004195240 likely pathogenic Retinitis pigmentosa 25 2024-03-16 criteria provided, single submitter clinical testing
GeneDx RCV001047358 SCV005201454 uncertain significance not provided 2023-10-14 criteria provided, single submitter clinical testing Reported with a second EYS variant, phase unknown, in patients with retinitis pigmentosa; however, these individuals also harbored variants in other genes associated with retinal dystrophy (Jespersgaard et al., 2019); Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 30718709)
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787590 SCV000926570 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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