ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) (rs527236086)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670387 SCV000795232 uncertain significance Enhanced S-cone syndrome; Retinitis pigmentosa 37 2017-11-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075734 SCV001241363 pathogenic Retinal dystrophy 2019-05-19 criteria provided, single submitter clinical testing
Invitae RCV001205439 SCV001376696 uncertain significance not provided 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 122 of the NR2E3 protein (p.Arg122Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with autosomal recessive retinitis pigmentosa and has been reported in an individual with retinal dystrophy (PMID: 24339724, 30324420). ClinVar contains an entry for this variant (Variation ID: 143147). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Not Available; Align-GVGD: Class C0). 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.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132672 SCV000172623 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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