Submissions for variant NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)

dbSNP: rs875989884

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva	RCV000211546	SCV000268523	pathogenic	X-linked hydrocephalus syndrome	2016-04-05	criteria provided, single submitter	clinical testing	The L1CAM pathogenic mutation was observed in a patient with hydrocephalus due to aqueductal stenosis.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002229193	SCV002511499	likely pathogenic	L1 syndrome	2022-04-07	criteria provided, single submitter	clinical testing	Variant summary: L1CAM c.2380C>T (p.Gln794X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 183249 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2380C>T in individuals affected with L1 Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.