ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.436G>A (p.Val146Met)

gnomAD frequency: 0.00005  dbSNP: rs199796566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132104 SCV002402550 benign Spastic paraplegia 2023-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418383 SCV004114461 uncertain significance L1CAM-related disorder 2023-06-26 criteria provided, single submitter clinical testing The L1CAM c.436G>A variant is predicted to result in the amino acid substitution p.Val146Met. This variant was reported in a patient with hereditary spastic paraplegia (HSP); however, this individual also harbored a de novo pathogenic variant in the HSP-causative gene REEP1 (Roda et al. 2017. PubMed ID: 28491902). This variant is reported in 0.016% of alleles in individuals of European (Finnish) descent in gnomAD, including 2 hemizygotes (http://gnomad.broadinstitute.org/variant/X-153136599-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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