ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys)

dbSNP: rs994675918
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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 RCV001238051 SCV001410845 uncertain significance Spastic paraplegia 2019-10-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with L1CAM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 408 of the L1CAM protein (p.Asn408Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796384 SCV005417150 uncertain significance MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate

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