ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1949+3G>A

gnomAD frequency: 0.00003  dbSNP: rs747818846
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343852 SCV001537870 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-08-20 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 is not likely to affect RNA splicing. This sequence change falls in intron 10 of the INF2 gene. It does not directly change the encoded amino acid sequence of the INF2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs747818846, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with INF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1040245).
AiLife Diagnostics, AiLife Diagnostics RCV002223303 SCV002501323 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002412079 SCV002724006 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.1949+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 9 in the INF2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001343852 SCV002775300 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-02-04 criteria provided, single submitter clinical testing

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.