ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.677G>A (p.Arg226His)

gnomAD frequency: 0.00004  dbSNP: rs544290323
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669982 SCV000794788 uncertain significance Enhanced S-cone syndrome; Retinitis pigmentosa 37 2017-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532094 SCV003467149 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 226 of the NR2E3 protein (p.Arg226His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs544290323, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with NR2E3-related conditions. ClinVar contains an entry for this variant (Variation ID: 554361). 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.
Breakthrough Genomics, Breakthrough Genomics RCV002532094 SCV005193909 uncertain significance not provided criteria provided, single submitter not provided
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817893 SCV005073165 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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