ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)

gnomAD frequency: 0.00001  dbSNP: rs786205493
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171237 SCV000221434 likely pathogenic not provided criteria provided, single submitter research
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376479 SCV001573636 likely pathogenic Retinitis pigmentosa 37 2021-04-08 criteria provided, single submitter research The NR2E3 c.373C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000171237 SCV002244477 pathogenic not provided 2024-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg125*) in the NR2E3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NR2E3 are known to be pathogenic (PMID: 15459973, 27522502). 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 premature translational stop signal has been observed in individual(s) with autosomal recessive NR2E3-related conditions (PMID: 23039133, 26355662). ClinVar contains an entry for this variant (Variation ID: 191060). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003468851 SCV004191603 pathogenic Enhanced S-cone syndrome 2024-01-29 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815268 SCV005072147 pathogenic Retinal dystrophy 2012-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003522 SCV005631020 pathogenic Enhanced S-cone syndrome; Retinitis pigmentosa 37 2024-02-12 criteria provided, single submitter clinical testing

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