ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu)

gnomAD frequency: 0.00012  dbSNP: rs200815347
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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 RCV001088727 SCV001001466 benign Spastic paraplegia 2024-10-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000861212 SCV001144423 uncertain significance not provided 2019-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986655 SCV005609921 uncertain significance Inborn genetic diseases 2024-10-21 criteria provided, single submitter clinical testing The c.3057T>G (p.D1019E) alteration is located in exon 23 (coding exon 23) of the L1CAM gene. This alteration results from a T to G substitution at nucleotide position 3057, causing the aspartic acid (D) at amino acid position 1019 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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