ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.545+5G>A

gnomAD frequency: 0.00001  dbSNP: rs756085990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578252 SCV000680317 pathogenic Multiple mitochondrial dysfunctions syndrome 1 2017-12-07 criteria provided, single submitter clinical testing
GeneDx RCV002298691 SCV002588325 pathogenic not provided 2022-04-26 criteria provided, single submitter clinical testing Published functional studies demonstrate that this variant causes aberrant splicing (Navarro-Sastre et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31589614, 26688339, 22077971, 28470589)

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