Submissions for variant NM_001321075.3(DLG4):c.210+1G>T

dbSNP: rs2070315709

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001057454	SCV001221949	likely pathogenic	not provided	2019-12-20	criteria provided, single submitter	clinical testing	This sequence change affects a donor splice site in intron 6 of the DLG4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DLG4 are known to be pathogenic (PMID: 27479843, 29460436). This variant has not been reported in the literature in individuals with DLG4-related conditions. This variant is not present in population databases (ExAC no frequency).
Institute of Human Genetics, University of Leipzig Medical Center	RCV001799728	SCV002044324	likely pathogenic	Intellectual developmental disorder 62	2021-12-21	criteria provided, single submitter	research
Tumer Group, Copenhagen University Hospital, Rigshospitalet	RCV001799728	SCV003915499	likely pathogenic	Intellectual developmental disorder 62	2023-02-28	criteria provided, single submitter	research