ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) (rs80338958)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516392 SCV000615084 likely pathogenic not provided 2019-05-10 criteria provided, single submitter clinical testing The best available variant frequency is 3-10 times higher than the disease allele frequency, and data include at least 10 observations. Statistically enriched in uncharacterized patients compared to unmatched population data. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004616 SCV001162774 likely benign Focal seizures criteria provided, single submitter clinical testing
OMIM RCV000006260 SCV000026442 pathogenic Paramyotonia congenita/hyperkalemic periodic paralysis 1992-10-01 no assertion criteria provided literature only
GeneReviews RCV000020271 SCV000040625 pathogenic Hyperkalemic Periodic Paralysis Type 1 2016-01-28 no assertion criteria provided literature only

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