ClinVar Miner

Submissions for variant NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)

gnomAD frequency: 0.00005  dbSNP: rs201728190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cirak Lab, University Hospital Cologne RCV000855465 SCV000996595 likely pathogenic Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 2019-06-28 criteria provided, single submitter research
GeneDx RCV004820124 SCV005440836 uncertain significance not provided 2024-06-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 31680123)

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