ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1639G>A (p.Val547Met)

dbSNP: rs201947393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172622 SCV001335685 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001806031 SCV002051980 uncertain significance Cardiomyopathy 2021-07-27 criteria provided, single submitter clinical testing This missense variant replaces valine with methionine at codon 547 of the LMNA protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx RCV003318663 SCV004023182 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 10939567)

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