ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3388-12C>G

dbSNP: rs2061494788
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842668 SCV001341072 uncertain significance Cardiac arrhythmia 2019-07-26 criteria provided, single submitter clinical testing This variant is located in intron 18 of the SCN5A gene. Computational splicing tools and conservation analyses are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant 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). 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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