ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.*1+1G>C

gnomAD frequency: 0.00007  dbSNP: rs758452999
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
GeneDx RCV001722412 SCV000577318 likely benign not provided 2020-06-24 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 29653220)
Illumina Laboratory Services, Illumina RCV000786965 SCV001270346 benign Focal segmental glomerulosclerosis 5 2018-10-31 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001295214 SCV001484128 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-09-30 criteria provided, single submitter clinical testing 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 sequence change falls in intron 22 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 (rs758452999, gnomAD 0.02%). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease and kidney disease (PMID: 29653220, 33712733). ClinVar contains an entry for this variant (Variation ID: 426785). 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786965 SCV000925870 uncertain significance Focal segmental glomerulosclerosis 5 2018-10-24 no assertion criteria provided 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.