Submissions for variant NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del)

dbSNP: rs1464481652

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000688042	SCV000815638	uncertain significance	Familial hyperkalemic periodic paralysis	2023-04-07	criteria provided, single submitter	clinical testing	This variant, c.5107_5109del, results in the deletion of 1 amino acid(s) of the SCN4A protein (p.Glu1703del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. Experimental studies have shown that this variant affects SCN4A function (PMID: 32129495). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 567853). This variant is also known as p.Glu1702del. This variant has been observed in individual(s) with SCN4A-related conditions (PMID: 32129495).
Athena Diagnostics	RCV000713122	SCV000843693	uncertain significance	not provided	2017-11-07	criteria provided, single submitter	clinical testing
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	RCV002267621	SCV002549804	pathogenic	SCN4A-related non-dystrophic myotonia	2022-04-06	no assertion criteria provided	research