ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)

gnomAD frequency: 0.00003  dbSNP: rs772881093
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074908 SCV001240513 likely pathogenic Retinal dystrophy 2019-08-17 criteria provided, single submitter clinical testing
Invitae RCV001857226 SCV002178602 uncertain significance not provided 2022-10-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 102 of the NR2E3 protein (p.Ala102Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with enhanced S-cone syndrome and/or inherited retinal dystrophy (PMID: 25079116, 26894784, 28559085, 32581362, 32679203). ClinVar contains an entry for this variant (Variation ID: 438227). 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 expected to disrupt NR2E3 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.
Baylor Genetics RCV003464082 SCV004191588 likely pathogenic Enhanced S-cone syndrome 2023-10-25 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504667 SCV000599198 likely pathogenic Abnormality of the eye 2015-01-01 no assertion criteria provided research Undetermined rare ocular disorder with frequency of less than eight patients

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