ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.223G>A (p.Val75Ile)

gnomAD frequency: 0.00011  dbSNP: rs750284532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224529 SCV001396732 uncertain significance not provided 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 75 of the NR2E3 protein (p.Val75Ile). This variant is present in population databases (rs750284532, gnomAD 0.03%). This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 29785639). ClinVar contains an entry for this variant (Variation ID: 952420). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt NR2E3 protein function with a negative predictive value of 80%. 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 RCV002504290 SCV002814942 uncertain significance Enhanced S-cone syndrome; Retinitis pigmentosa 37 2022-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833941 SCV002085590 uncertain significance Enhanced S-cone syndrome 2020-02-01 no assertion criteria provided clinical testing

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