ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.243dup (p.Gly82fs)

dbSNP: rs2142886600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001800189 SCV002044327 pathogenic Intellectual developmental disorder 62 2021-12-21 criteria provided, single submitter research
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV001800189 SCV003915524 pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center RCV001800189 SCV004037362 pathogenic Intellectual developmental disorder 62 2020-06-11 criteria provided, single submitter clinical testing The c.234dupT variant is a heterozygous single base pair duplication at nucleotide c.234 in exon 5 of 20 of the DLG4 gene, resulting in the substitution of the glycine residue at amino acid position 79 to a tryptophan, and a reading frame shift causing premature termination of translation three amino acid residues downstream. This premature truncation is expected to cause nonsense mediated mRNA decay. This variant is absent from the Genome Aggregation Database (gnomAD), indicating it is not a common benign variant in the populations represented in this database. Heterozygous loss of function variants in DLG4 have been observed in multiple individuals with clinical features of Intellectual Developmental Disorder 62 (PMIDs: 27479843, 29460436). To the best of our knowledge this exact variant has not been reported in the literature or in ClinVar, however several nonsense and frameshift variants downstream of p.Gly79TrpfsTer3 have been reported in the literature and in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar; Last accessed: 6/2/2020).

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