ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)

gnomAD frequency: 0.00003  dbSNP: rs201978087
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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 RCV003120621 SCV003796155 likely benign Spastic paraplegia 2024-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495862 SCV002794216 uncertain significance MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 2022-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359156 SCV002622900 uncertain significance Inborn genetic diseases 2019-04-03 criteria provided, single submitter clinical testing The p.R129W variant (also known as c.385C>T), located in coding exon 4 of the L1CAM gene, results from a C to T substitution at nucleotide position 385. The arginine at codon 129 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is poorly 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.
CeGaT Center for Human Genetics Tuebingen RCV001532221 SCV001747674 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing

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