ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)

gnomAD frequency: 0.00001  dbSNP: rs386833987
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049964 SCV000487087 pathogenic Salla disease 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV000049964 SCV004293774 pathogenic Salla disease 2023-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 56551). This premature translational stop signal has been observed in individual(s) with SLC17A5-related conditions (PMID: 10947946). This variant is present in population databases (rs386833987, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Leu336Trpfs*14) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049964 SCV000082373 probable-pathogenic Salla disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.