ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.897C>G (p.Ile299Met)

dbSNP: rs762718963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316027 SCV000335448 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172625 SCV001335688 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183036 SCV001348686 uncertain significance Cardiomyopathy 2021-03-25 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with methionine at codon 299 of the lamin A/C proteins. 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 been identified in 2/250218 chromosomes 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 RCV000316027 SCV003926091 uncertain significance not provided 2022-11-22 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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