ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.464G>A (p.Arg155His)

gnomAD frequency: 0.00003  dbSNP: rs1361341993
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074227 SCV001239800 uncertain significance Retinal dystrophy 2019-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001364802 SCV001560982 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 155 of the NR2E3 protein (p.Arg155His). 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 variant has not been reported in the literature in individuals affected with NR2E3-related conditions. ClinVar contains an entry for this variant (Variation ID: 866331). 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.
Natera, Inc. RCV001828536 SCV002085608 uncertain significance Enhanced S-cone syndrome 2020-02-26 no assertion criteria provided clinical testing

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