ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1472A>C (p.Glu491Ala)

dbSNP: rs759752693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585276 SCV000693219 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV000585276 SCV003330339 uncertain significance not provided 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 491 of the EYS protein (p.Glu491Ala). This variant is present in population databases (rs759752693, gnomAD 0.0009%). 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: 493438). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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