ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg)

gnomAD frequency: 0.00010  dbSNP: rs376833596
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602775 SCV000726797 likely benign not specified 2018-01-29 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.
Invitae RCV001079138 SCV001018569 likely benign Hyperkalemic periodic paralysis 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000876059 SCV001151392 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528600 SCV003724548 uncertain significance Inborn genetic diseases 2022-07-05 criteria provided, single submitter clinical testing The c.5468C>G (p.P1823R) alteration is located in exon 24 (coding exon 24) of the SCN4A gene. This alteration results from a C to G substitution at nucleotide position 5468, causing the proline (P) at amino acid position 1823 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000876059 SCV003818693 uncertain significance not provided 2022-03-24 criteria provided, single submitter clinical testing

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