ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4097_4100del (p.Thr1366fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004802600 SCV005428273 pathogenic Brugada syndrome 2024-07-29 criteria provided, single submitter clinical testing This variant deletes 4 nucleotides in exon 23 of the SCN5A gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, 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). Loss of SCN5A function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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