ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.*3G>A

gnomAD frequency: 0.00001  dbSNP: rs530713211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001175984 SCV001339797 uncertain significance Cardiomyopathy 2023-02-28 criteria provided, single submitter clinical testing This variant causes a single nucleotide substitution in the 3' untranslated region of the MYL2 gene. To our knowledge, functional studies have not been reported for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/250400 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.
All of Us Research Program, National Institutes of Health RCV004000310 SCV004822181 uncertain significance Hypertrophic cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing This variant causes a single nucleotide substitution in the 3' untranslated region of the MYL2 gene. To our knowledge, functional studies have not been reported for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/250400 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.

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