Submissions for variant NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)

dbSNP: rs386834070

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000412863	SCV000490993	pathogenic	not provided	2023-07-21	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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27435318, 25525159, 19006247, 15173253)
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000050058	SCV000996276	pathogenic	Cohen syndrome		criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000050058	SCV004805180	pathogenic	Cohen syndrome	2024-03-17	criteria provided, single submitter	research
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	RCV000050058	SCV000082467	probable-pathogenic	Cohen syndrome		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000491892	SCV000282205	pathogenic	Global developmental delay; Unsteady gait; Microcephaly; Carious teeth; Intellectual disability; Generalized joint hypermobility; Attention deficit hyperactivity disorder; Hypotonia	2016-01-10	no assertion criteria provided	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000050058	SCV000854665	pathogenic	Cohen syndrome	2018-04-27	no assertion criteria provided	clinical testing