ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly)

gnomAD frequency: 0.00031  dbSNP: rs201690244
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353162 SCV000332638 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371200 SCV000464390 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000353162 SCV001220685 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2930 of the EYS protein (p.Asp2930Gly). This variant is present in population databases (rs201690244, gnomAD 0.06%). 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: 281710). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Revvity Omics, Revvity RCV003144191 SCV003832305 uncertain significance Retinitis pigmentosa 25 2019-08-17 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888671 SCV004707393 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001271918 SCV001453476 uncertain significance Retinitis pigmentosa 2020-04-16 no assertion criteria provided clinical testing

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