ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=)

gnomAD frequency: 0.00009  dbSNP: rs137967792
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001643341 SCV001857886 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847313 SCV002105392 likely benign Hereditary spastic paraplegia 2017-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386493 SCV002689548 benign Inborn genetic diseases 2017-08-30 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002539576 SCV003274358 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing

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