ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter)

gnomAD frequency: 0.00001  dbSNP: rs1297603674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004794468 SCV005414841 pathogenic not provided 2024-05-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation, as the last 51 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 26986877, 36923788, 34837429, 38511490, 32275123, 34573359)
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985203 SCV001133229 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2019-09-26 no assertion criteria provided clinical testing

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