ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1403C>T (p.Pro468Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003437762 SCV004154191 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing SCN5A: PM2, PS4:Supporting
All of Us Research Program, National Institutes of Health RCV004011317 SCV004827229 uncertain significance Cardiac arrhythmia 2024-02-05 criteria provided, single submitter clinical testing This missense variant replaces proline with leucine at codon 468 of the SCN5A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). A functional study has shown this variant does not change channel function in transfected HEK cells (PMID: 19829766). This variant has been reported in an individual affected with Brugada syndrome and aborted sudden cardiac death, as well as in three unaffected family members . This variant has been identified in 3/248632 chromosomes 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.
GeneDx RCV003437762 SCV005888880 uncertain significance not provided 2024-09-13 criteria provided, single submitter clinical testing Observed in large population cohorts (gnomAD; internal data); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33131149, 19829766, 25467552, 30203441)

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