ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1149del (p.Ala384fs)

dbSNP: rs2141907691
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543536 SCV001762161 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651687 SCV005138961 pathogenic Inborn genetic diseases 2024-04-26 criteria provided, single submitter clinical testing The c.1149delC (p.A384Lfs*29) alteration, located in exon 11 (coding exon 10) of the NPRL3 gene, consists of a deletion of one nucleotide at position 1149, causing a translational frameshift with a predicted alternate stop codon after 29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005094762 SCV005759478 pathogenic Epilepsy, familial focal, with variable foci 3 2024-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala384Leufs*29) in the NPRL3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPRL3 are known to be pathogenic (PMID: 26285051, 26505888). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1184941). For these reasons, this variant has been classified as 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.