ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)

gnomAD frequency: 0.00004  dbSNP: rs781908326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532238 SCV000629394 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721055 SCV000851940 uncertain significance History of neurodevelopmental disorder 2016-09-16 criteria provided, single submitter clinical testing The p.R113H variant (also known as c.338G>A), located in coding exon 4 of the L1CAM gene, results from a G to A substitution at nucleotide position 338. The arginine at codon 113 is replaced by histidine, an amino acid with highly similar properties. This variant co-segregated with disease in one family tested in our laboratory. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV003925596 SCV004746279 likely benign L1CAM-related disorder 2023-04-18 no assertion criteria provided 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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