ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002437150 SCV002745520 uncertain significance Inborn genetic diseases 2017-09-21 criteria provided, single submitter clinical testing The p.D869E variant (also known as c.2607C>A), located in coding exon 20 of the L1CAM gene, results from a C to A substitution at nucleotide position 2607. The aspartic acid at codon 869 is replaced by glutamic acid, an amino acid with highly similar properties. 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 alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102023 SCV003522920 benign Spastic paraplegia 2023-12-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481309 SCV004225685 uncertain significance not provided 2022-04-22 criteria provided, single submitter clinical testing BP4

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