ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)

dbSNP: rs761760327
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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 RCV001057873 SCV001222390 pathogenic not provided 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1764Asnfs*6) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). This variant is present in population databases (rs761760327, gnomAD 0.01%). 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: 853125). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222664 SCV002500085 likely pathogenic Retinitis pigmentosa 2022-03-04 criteria provided, single submitter clinical testing Variant summary: EYS c.5290dupA (p.Ile1764AsnfsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 6.5e-06 in 153564 control chromosomes (gnomAD). To our knowledge, no occurrence of c.5290dupA in individuals affected with Retinitis Pigmentosa and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed this variant since 2014: the variant was classified as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV003462571 SCV004195254 likely pathogenic Retinitis pigmentosa 25 2023-12-30 criteria provided, single submitter clinical testing

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