ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6874A>C (p.Asn2292His)

gnomAD frequency: 0.00004  dbSNP: rs906094515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074648 SCV001240240 uncertain significance Retinal dystrophy 2019-02-21 criteria provided, single submitter clinical testing
Invitae RCV001862571 SCV002168226 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 2292 of the EYS protein (p.Asn2292His). This variant is present in population databases (no rsID available, 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: 866556). 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 tolerated. 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.
Natera, Inc. RCV001279249 SCV001466332 uncertain significance Autosomal recessive retinitis pigmentosa 2020-07-29 no assertion criteria provided clinical testing

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