ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)

gnomAD frequency: 0.00004  dbSNP: rs782752037
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001428176 SCV001630869 likely benign Spastic paraplegia 2023-12-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000867169 SCV001879557 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987728 SCV004804310 likely benign not specified 2024-01-09 criteria provided, single submitter clinical testing Variant summary: L1CAM c.367G>A (p.Ala123Thr) results in a non-conservative amino acid change located in the Immunoglobulin subtype domain (IPR003599) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 1206577 control chromosomes, including 14 hemizygotes. This frequency is not significantly higher than estimated for a pathogenic variant in L1CAM causing L1 Syndrome (3.2e-05 vs 0.0065), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.367G>A in individuals affected with L1 Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 699379). Based on the evidence outlined above, the variant was classified as as likely benign.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.