ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2000G>A (p.Arg667His) (rs549456693)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513214 SCV000609217 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000670182 SCV000795009 uncertain significance Retinitis pigmentosa 25 2017-10-24 criteria provided, single submitter clinical testing
Invitae RCV000513214 SCV001204999 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 667 of the EYS protein (p.Arg667His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs549456693, ExAC 0.1%). This variant has been reported in an individual affected with retinitis pigmentosa (PMID: 28041643). 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, but 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.
Blueprint Genetics RCV001074081 SCV001239650 uncertain significance Retinal dystrophy 2018-12-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000504709 SCV001321746 uncertain significance Retinitis pigmentosa 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504709 SCV000599147 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504709 SCV000926845 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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