ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=)

gnomAD frequency: 0.00008  dbSNP: rs782341083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500638 SCV000595473 likely benign not specified 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV002056853 SCV002386524 benign Spastic paraplegia 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350120 SCV002619340 benign Inborn genetic diseases 2019-02-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003962387 SCV004780858 likely benign L1CAM-related condition 2020-04-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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