ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.302+3A>G

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002300923 SCV002588196 pathogenic not provided 2022-04-28 criteria provided, single submitter clinical testing Published functional studies demonstrate that this variant causes aberrant splicing (Ahting et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25918518)
Labcorp Genetics (formerly Invitae), Labcorp RCV003101709 SCV003524646 uncertain significance Multiple mitochondrial dysfunctions syndrome 1 2022-08-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has been observed in individual(s) with multiple mitochondrial dysfunctions syndrome (PMID: 25918518). This variant is present in population databases (rs559190059, gnomAD 0.007%). This sequence change falls in intron 3 of the NFU1 gene. It does not directly change the encoded amino acid sequence of the NFU1 protein. It affects a nucleotide within the consensus splice site.
OMIM RCV003101709 SCV005201138 pathogenic Multiple mitochondrial dysfunctions syndrome 1 2024-09-12 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.