ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4288+6C>T

gnomAD frequency: 0.00004  dbSNP: rs148187651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502756 SCV000596976 uncertain significance not specified 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001312921 SCV001503395 uncertain significance Hyperkalemic periodic paralysis 2023-10-24 criteria provided, single submitter clinical testing This sequence change falls in intron 23 of the SCN4A gene. It does not directly change the encoded amino acid sequence of the SCN4A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs148187651, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. ClinVar contains an entry for this variant (Variation ID: 436664). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001591142 SCV001816903 likely benign not provided 2022-05-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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