ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2179G>A (p.Glu727Lys)

gnomAD frequency: 0.00001  dbSNP: rs1386982536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774381 SCV002002211 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005397001 SCV006057145 uncertain significance MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 2020-07-29 criteria provided, single submitter research

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