ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6571+5G>A

gnomAD frequency: 0.00005  dbSNP: rs991580368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001364777 SCV001560953 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing This sequence change falls in intron 32 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. 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 variant has been observed in individuals with clinical features of retinal disease (PMID: 29550188; Invitae). ClinVar contains an entry for this variant (Variation ID: 1056012). 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. 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 RCV001831254 SCV004195307 pathogenic Retinitis pigmentosa 25 2024-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831254 SCV002084311 uncertain significance Retinitis pigmentosa 25 2020-12-02 no assertion criteria provided clinical testing

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