ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.329G>A (p.Arg110His) (rs556237236)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000626177 SCV000746813 likely pathogenic Dilated cardiomyopathy 1A 2020-05-03 criteria provided, single submitter clinical testing
Color Health, Inc RCV001186690 SCV001353242 uncertain significance Cardiomyopathy 2020-10-22 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 110 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 performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 13/242084 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The relatively high frequency of this variant in the general population suggests that this variant is unlikely to be disease-causing. However, additional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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