ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.520G>T (p.Glu174Ter)

dbSNP: rs786205515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171277 SCV000221474 likely pathogenic not provided criteria provided, single submitter research
GeneDx RCV000171277 SCV000330366 pathogenic not provided 2023-05-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26112015, 29897170, 29620724)

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