ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1300T>A (p.Phe434Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University RCV003319260 SCV003932394 uncertain significance Primary dilated cardiomyopathy 2023-06-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009687 SCV004827262 uncertain significance Cardiac arrhythmia 2023-07-19 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with isoleucine at codon 434 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). 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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