ClinVar Miner

Submissions for variant NM_001321075.3(DLG4):c.990C>T (p.Gly330=)

dbSNP: rs769940216
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090637 SCV001246295 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001799732 SCV002044341 pathogenic Intellectual developmental disorder 62 2021-12-21 criteria provided, single submitter research
Revvity Omics, Revvity RCV001090637 SCV003834703 uncertain significance not provided 2022-04-14 criteria provided, single submitter clinical testing
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV001799732 SCV003915480 pathogenic Intellectual developmental disorder 62 2023-02-28 criteria provided, single submitter research
GeneDx RCV001090637 SCV005874765 pathogenic not provided 2024-08-30 criteria provided, single submitter clinical testing Synonymous variant with RNA studies demonstrating this variant results in a deletion in the RNA transcript (r.1118_1212del) predicted to result in frameshift, p.(Glu373Glnfs*11) (PMID: 33597769); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33597769, 27535533, 38135915, 37525972)

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