ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)

dbSNP: rs1603276146
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850499 SCV000992699 likely pathogenic MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 2018-10-12 criteria provided, single submitter clinical testing
GeneDx RCV002225750 SCV002504077 pathogenic not provided 2022-07-08 criteria provided, single submitter clinical testing Published functional studies in a mouse model demonstrate L1 syndrome phenotype; mouse neurons had reduced outgrowth, migration, and survival (Loers et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25934484, 25644381, 31216405, 32404617, 26891472, 25641508, 33484186)

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