Submissions for variant NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002885044	SCV003238867	likely benign	Spastic paraplegia	2023-10-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003388128	SCV004100234	uncertain significance	not specified	2023-09-28	criteria provided, single submitter	clinical testing	Variant summary: L1CAM c.1864G>A (p.Asp622Asn) results in a conservative amino acid change located in a Fibronectin type III domain (IPR003961) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.1e-05 in 180575 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1864G>A in individuals affected with L1 Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.