ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.-9G>T

dbSNP: rs2062572222
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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 RCV001843283 SCV001352736 uncertain significance Cardiac arrhythmia 2022-12-08 criteria provided, single submitter clinical testing This variant changes one nucleotide in the conserved 5' untranslated region of the SCN5A gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SCN5A-related 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.

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