ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)

dbSNP: rs1182894684
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001171614 SCV001334412 likely pathogenic not provided 2019-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001171614 SCV001812167 pathogenic not provided 2022-06-23 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27479843, 33597769)
Institute of Human Genetics, University of Leipzig Medical Center RCV001004850 SCV002044340 pathogenic Intellectual developmental disorder 62 2021-12-21 criteria provided, single submitter research
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001004850 SCV002577723 pathogenic Intellectual developmental disorder 62 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM6;PM2_supporting
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV001004850 SCV003915475 pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003396590 SCV004103209 pathogenic DLG4-related disorder 2023-04-11 criteria provided, single submitter clinical testing The DLG4 c.1054C>T variant is predicted to result in premature protein termination (p.Arg352*). This variant has been reported as arising de novo in individuals with intellectual disability (Table S2 in Lelieveld et al. 2016. PubMed ID: 27479843; Rodríguez-Palmero et al. 2021. PubMed ID: 33597769). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in DLG4 are expected to be pathogenic, and this variant has been classified as pathogenic or likely pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/813881/). Given the evidence, we interpret c.1054C>T (p.Arg352*) as pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001004850 SCV005418240 pathogenic Intellectual developmental disorder 62 criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PS4_Supporting+PM6
OMIM RCV001004850 SCV001164326 pathogenic Intellectual developmental disorder 62 2020-12-11 no assertion criteria provided literature only

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