Submissions for variant NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del)

dbSNP: rs776181227

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552267	SCV000658536	uncertain significance	Hyperkalemic periodic paralysis	2024-10-30	criteria provided, single submitter	clinical testing	This variant, c.2585_2602del, results in the deletion of 6 amino acid(s) of the SCN4A protein (p.Asp862_Ala867del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776181227, gnomAD 0.008%). 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: 477406). 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	RCV002225664	SCV002503973	uncertain significance	not provided	2023-07-17	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In-frame deletion of 6 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics	RCV005004244	SCV002791301	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	2024-05-07	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV002225664	SCV003821240	uncertain significance	not provided	2020-07-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV002225664	SCV004230011	uncertain significance	not provided	2023-05-03	criteria provided, single submitter	clinical testing	Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease.