ClinVar Miner

Submissions for variant NC_000016.9:g.(?_11650347)_(11650606_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324797 SCV001515763 uncertain significance Charcot-Marie-Tooth disease type 1C 2018-06-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the LITAF gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the LITAF gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in individuals affected with LITAF-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LITAF cause disease. 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.

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.