ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.390-3C>T

gnomAD frequency: 0.00006  dbSNP: rs754629068
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687840 SCV000815428 uncertain significance Hereditary spastic paraplegia 45 2022-08-23 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the NT5C2 gene. It does not directly change the encoded amino acid sequence of the NT5C2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs754629068, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NT5C2-related conditions. ClinVar contains an entry for this variant (Variation ID: 567683). 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. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849050 SCV002105440 uncertain significance Hereditary spastic paraplegia 2018-10-01 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.