ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.95G>A (p.Trp32Ter)

dbSNP: rs2054172807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237742 SCV001410516 pathogenic not provided 2021-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp32*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual affected with retinitis pigmentosa (PMID: 22334370). ClinVar contains an entry for this variant (Variation ID: 963680). This variant is not present in population databases (ExAC no frequency).
Baylor Genetics RCV004570606 SCV005053698 likely pathogenic Enhanced S-cone syndrome 2024-02-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001237742 SCV002034694 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001237742 SCV002037256 pathogenic not provided no assertion criteria provided clinical testing

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