ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs)

dbSNP: rs574936510
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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 RCV001321295 SCV001512117 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Phe391Profs*15) in the NR2E3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acid(s) of the NR2E3 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive NR2E3-related conditions (PMID: 34440443). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 560470). This variant disrupts a region of the NR2E3 protein in which other variant(s) (p.Met407Lys) have been determined to be pathogenic (PMID: 10655056, 19898638, 24069298, 25703721, 28300834). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678583 SCV000804665 pathogenic Leber congenital amaurosis 2016-09-01 no assertion criteria provided clinical testing

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