ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) (rs1555601448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518217 SCV000615086 likely pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV000545880 SCV000658561 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2017-06-21 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1158 of the SCN4A protein (p.Pro1158Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with myotonia permanens (PMID: 27164696). Experimental studies have shown that this missense change affects proper conductance of the SCN4A protein channel (PMID: 27164696). In summary, this variant has uncertain impact on SCN4A function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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