ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7721A>C (p.Gln2574Pro)

gnomAD frequency: 0.00001  dbSNP: rs1353713143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075749 SCV001241379 uncertain significance Retinal dystrophy 2019-05-30 criteria provided, single submitter clinical testing
Invitae RCV002554771 SCV003009678 uncertain significance not provided 2022-07-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 2574 of the EYS protein (p.Gln2574Pro). 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. 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 C15"). ClinVar contains an entry for this variant (Variation ID: 867168). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency).

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