ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4759C>T (p.Leu1587Phe)

dbSNP: rs1567816227
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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 RCV000713116 SCV000843687 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing
3billion RCV003152729 SCV003841383 uncertain significance Hyperkalemic periodic paralysis 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.79; 3Cnet: 0.45). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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