ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) (rs201652272)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174710 SCV000226064 uncertain significance not provided 2014-08-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342934 SCV000464461 uncertain significance Retinitis pigmentosa 2016-08-27 criteria provided, single submitter clinical testing The EYS c.2234A>G (p.Asn745Ser) variant is a missense variant that has been reported in four studies and identified in a compound heterozygous state with a stop-gained variant in two siblings with autosomal recessive retinitis pigmentosa and in one individual with cone and cone-rod dystrophy as well as in a heterozygous state in two individuals with retinitis pigmentosa in whom a second variant could not be found (Audo et al. 2010; Barragan et al. 2010; Pieras et al. 2011; Boulanger-Scemama et al. 2015). The p.Asn745Ser variant was absent from 728 controls and is reported at a frequency of 0.00134 in the African population of the Exome Aggregation Consortium. Based on the evidence, the p.Asn745Ser variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Blueprint Genetics RCV001073420 SCV001238961 uncertain significance Retinal dystrophy 2019-01-31 criteria provided, single submitter clinical testing
Invitae RCV000174710 SCV001417706 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 745 of the EYS protein (p.Asn745Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs201652272, ExAC 0.1%). This variant has been observed to segregate with autosomal recessive retinitis pigmentosa in a family and is present in an unrelated individual with autosomal recessive cone-rod dystrophy (PMID: 21069908, 26103963). ClinVar contains an entry for this variant (Variation ID: 194357). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C45". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000174710 SCV001447696 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000678566 SCV001573663 likely pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.2234A>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PS1, PM2, PM3. Based on this evidence we have classified this variant as Likely Pathogenic.
Human Genetics - Radboudumc,Radboudumc RCV000678566 SCV000804645 uncertain significance Retinitis pigmentosa 25 2016-09-01 no assertion criteria provided clinical testing

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