ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)

gnomAD frequency: 0.00002  dbSNP: rs919157306
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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 RCV002535753 SCV003439446 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 2685 of the EYS protein (p.Gly2685Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features of retinitis pigmentosa (PMID: 29074561, 30718709, 32728228). ClinVar contains an entry for this variant (Variation ID: 636030). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV003467320 SCV004192958 pathogenic Retinitis pigmentosa 25 2024-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000787598 SCV005184408 likely pathogenic Retinitis pigmentosa 2024-05-29 criteria provided, single submitter clinical testing Variant summary: EYS c.8054G>A (p.Gly2685Glu) results in a non-conservative amino acid change located in the EGF like domain (IPR000742) of the encoded protein sequence.Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.4e-06 in 156048 control chromosomes. c.8054G>A has been reported in the literature in individuals affected with clinical features of retinitis pigmentosa (examples: Ellingford_2018, Cundy_2021, Xu_2021, Panneman_2023). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 20237254, 32728228, 29074561, 36819107, 34178978). ClinVar contains an entry for this variant (Variation ID: 636030). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003467320 SCV005673244 likely pathogenic Retinitis pigmentosa 25 2024-05-28 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787598 SCV000926581 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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