ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del)

dbSNP: rs781515976
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193695 SCV000248823 uncertain significance not specified 2015-04-08 criteria provided, single submitter clinical testing
Invitae RCV000544094 SCV000658601 uncertain significance Hyperkalemic periodic paralysis 2023-12-15 criteria provided, single submitter clinical testing This variant, c.5420_5425del, results in the deletion of 2 amino acid(s) of the SCN4A protein (p.Leu1807_Met1808del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781515976, gnomAD 0.1%). 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: 212133). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV000766393 SCV000710622 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503757 SCV002815323 uncertain significance Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2022-02-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000766393 SCV003818695 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003422099 SCV004116800 uncertain significance SCN4A-related condition 2023-05-25 criteria provided, single submitter clinical testing The SCN4A c.5420_5425del6 variant is predicted to result in an in-frame deletion (p.Leu1807_Met1808del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.10% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-62018216-GGCATCA-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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