ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter)

dbSNP: rs778104648
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266082 SCV001444254 pathogenic Inborn genetic diseases 2020-09-22 criteria provided, single submitter clinical testing The c.1675C>T (p.R559*) alteration, located in coding exon 17 of the DLG4 gene, results from a C to T substitution at nucleotide position 1675. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 559. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD), the DLG4 c.1675C>T alteration was not observed, with coverage at this position. Based on the available evidence, this alteration is classified as pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001799753 SCV002044359 pathogenic Intellectual developmental disorder 62 2024-02-19 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2,PS4_MOD,PM2_SUP
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV001799753 SCV003915504 pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research
GeneDx RCV004720832 SCV005327366 pathogenic not provided 2024-01-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 38135915, 36854414, 33597769)

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.