ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys)

gnomAD frequency: 0.00006  dbSNP: rs1045422843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799308 SCV000938965 uncertain significance Familial hyperkalemic periodic paralysis 2022-09-10 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SCN4A protein function. ClinVar contains an entry for this variant (Variation ID: 645260). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1709 of the SCN4A protein (p.Asn1709Lys).
Fulgent Genetics, Fulgent Genetics RCV002477828 SCV002797015 uncertain significance Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2022-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166177 SCV003876265 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.5127C>A (p.N1709K) alteration is located in exon 24 (coding exon 24) of the SCN4A gene. This alteration results from a C to A substitution at nucleotide position 5127, causing the asparagine (N) at amino acid position 1709 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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