ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4359G>A (p.Ala1453=)

gnomAD frequency: 0.00002  dbSNP: rs757915411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420447 SCV000528159 likely benign not specified 2016-06-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000951412 SCV001097810 likely benign Familial hyperkalemic periodic paralysis 2024-01-03 criteria provided, single submitter clinical testing

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