ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1327G>A (p.Glu443Lys) (rs1558132212)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000774489 SCV000908192 uncertain significance Cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the lamin tail domain of the LMNA protein that mediates protein and DNA binding. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in an individual affected with limb girdle muscular dystrophy (PMID: 28688748). This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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