ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val)

gnomAD frequency: 0.00029  dbSNP: rs35504565
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178487 SCV000230575 uncertain significance not provided 2014-06-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263341 SCV000464394 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000178487 SCV001412170 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2694 of the EYS protein (p.Ile2694Val). This variant is present in population databases (rs35504565, gnomAD 0.04%). This missense change has been observed in individual(s) with inherited retinal disease (PMID: 32037395). ClinVar contains an entry for this variant (Variation ID: 197456). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EYS 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.
Natera, Inc. RCV001278457 SCV001465470 uncertain significance Autosomal recessive retinitis pigmentosa 2020-09-02 no assertion criteria provided clinical testing

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