ClinVar Miner

Submissions for variant NC_000014.8:g.(?_78045288)_(78045462_?)dup

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
Invitae RCV000820582 SCV000961299 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2018-12-25 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 3 of the SPTLC2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SPTLC2-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SPTLC2 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.