ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3441+4G>A

gnomAD frequency: 0.00001  dbSNP: rs765176007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615391 SCV000721289 likely benign not specified 2017-07-28 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 RCV001361857 SCV001557847 uncertain significance Hyperkalemic periodic paralysis 2021-11-02 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 510915). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is present in population databases (rs765176007, gnomAD 0.004%). This sequence change falls in intron 18 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.
Fulgent Genetics, Fulgent Genetics RCV005019032 SCV005651744 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-03-08 criteria provided, single submitter clinical testing

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