ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp) (rs267607647)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772168 SCV000905285 uncertain significance Cardiomyopathy 2018-10-28 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the myosin head/motor domain of the LMNA protein. 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. An experimental functional assay has shown that this variant may reduce binding for nesprin-2 (PMID: 23977161). This variant has been reported in an individual affected with metabolic syndrome (PMID: 21724554). This variant has been identified in 3/245042 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057259 SCV000088372 not provided not provided no assertion provided not provided

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