ClinVar Miner

Submissions for variant NM_194318.4(B3GLCT):c.335del (p.Pro112fs)

dbSNP: rs2137805318
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
Ambry Genetics RCV002573257 SCV003617440 pathogenic Inborn genetic diseases 2022-06-16 criteria provided, single submitter clinical testing The c.335delC (p.P112Rfs*8) alteration, located in exon 5 (coding exon 5) of the B3GLCT gene, consists of a deletion of one nucleotide at position 335, causing a translational frameshift with a predicted alternate stop codon after 8 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579971 SCV001809236 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579971 SCV001963793 pathogenic not provided 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.