Submissions for variant NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)

dbSNP: rs760403755

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001756655	SCV001986223	uncertain significance	not provided	2020-09-03	criteria provided, single submitter	clinical testing	In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32660787, 27415035, 32798841)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002032775	SCV002248586	uncertain significance	Hyperkalemic periodic paralysis	2024-09-03	criteria provided, single submitter	clinical testing	This variant, c.2638_2640del, results in the deletion of 1 amino acid(s) of the SCN4A protein (p.Lys880del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760403755, gnomAD 0.09%). This variant has been observed in individual(s) with SCN4A-related conditions (PMID: 27415035, 32660787, 32798841, 35907044, 36116128, 36779057; internal data). ClinVar contains an entry for this variant (Variation ID: 1303156). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects SCN4A function (PMID: 36116128). 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.
Fulgent Genetics, Fulgent Genetics	RCV005005271	SCV002778403	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	2024-05-20	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV002032775	SCV004805696	uncertain significance	Hyperkalemic periodic paralysis	2024-03-29	criteria provided, single submitter	clinical testing
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	RCV002267639	SCV002549809	uncertain significance	SCN4A-related non-dystrophic myotonia	2022-04-06	no assertion criteria provided	research
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	RCV002032775	SCV002600057	uncertain significance	Hyperkalemic periodic paralysis	2022-04-12	no assertion criteria provided	research