ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.443C>T (p.Ala148Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003707745 SCV004479785 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 148 of the NR2E3 protein (p.Ala148Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NR2E3-related conditions. 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) performed at Invitae indicates that this missense variant is not expected to disrupt NR2E3 protein function with a negative predictive value of 95%. 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.
Dept Of Ophthalmology, Nagoya University RCV003889328 SCV004707836 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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