ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=)

gnomAD frequency: 0.00009  dbSNP: rs201081454
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865405 SCV001006361 benign Spastic paraplegia 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847058 SCV002105403 uncertain significance Hereditary spastic paraplegia 2017-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427122 SCV002730928 likely benign Inborn genetic diseases 2018-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003992410 SCV004811081 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing L1CAM: BP4, BP7, BS2

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