Submissions for variant NM_001321075.3(DLG4):c.525dup (p.Gly176fs)

dbSNP: rs1597471063

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001008151	SCV001167912	pathogenic	not provided	2018-06-04	criteria provided, single submitter	clinical testing	The c.654dupA variant in the DLG4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.654dupA variant causes a frameshift starting with codon Glycine 219, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position (codon #) of the new reading frame, denoted p.Gly219ArgfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.654dupA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.654dupA as a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001799716	SCV002044332	pathogenic	Intellectual developmental disorder 62	2021-12-21	criteria provided, single submitter	research
Tumer Group, Copenhagen University Hospital, Rigshospitalet	RCV001799716	SCV003915462	pathogenic	Intellectual developmental disorder 62	2023-02-28	criteria provided, single submitter	research