ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.703+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV001524695 SCV001734631 likely pathogenic Arrhythmia 2020-08-04 criteria provided, single submitter clinical testing This variant causes a G to T nucleotide substitution at the +1 position of intron 6 of the SCN5A gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is expected to result in an absent or disrupted protein product. 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 not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of SCN5A function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.

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