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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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 2023-08-24 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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