ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)

gnomAD frequency: 0.00008  dbSNP: rs199888009
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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 RCV000500394 SCV000595479 uncertain significance not specified 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV001517300 SCV001725778 benign Spastic paraplegia 2022-07-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848871 SCV002105395 likely benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413377 SCV002716199 likely benign Inborn genetic diseases 2018-03-12 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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