ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)

gnomAD frequency: 0.00004  dbSNP: rs374714909
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225106 SCV001397342 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2650 of the EYS protein (p.Ser2650Phe). This variant is present in population databases (rs374714909, gnomAD 0.08%). This missense change has been observed in individuals with retinal dystrophy (PMID: 24938718, 25356976). ClinVar contains an entry for this variant (Variation ID: 636169). 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.
Fulgent Genetics, Fulgent Genetics RCV001830681 SCV002801522 uncertain significance Retinitis pigmentosa 25 2022-04-18 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV000787834 SCV004707419 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001830681 SCV005418036 uncertain significance Retinitis pigmentosa 25 criteria provided, single submitter clinical testing PM2_Supporting+PM3_Supporting+PP4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787834 SCV000926848 likely pathogenic Retinal dystrophy 2018-04-01 no assertion criteria provided research
Natera, Inc. RCV001830681 SCV002083503 uncertain significance Retinitis pigmentosa 25 2020-12-27 no assertion criteria provided clinical testing

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