ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2802G>C (p.Glu934Asp)

gnomAD frequency: 0.00002  dbSNP: rs371920760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928299 SCV002180180 uncertain significance Hyperkalemic periodic paralysis 2024-10-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 934 of the SCN4A protein (p.Glu934Asp). This variant is present in population databases (rs371920760, gnomAD 0.05%). 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: 1413775). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SCN4A protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV004955825 SCV005500096 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.2802G>C (p.E934D) alteration is located in exon 14 (coding exon 14) of the SCN4A gene. This alteration results from a G to C substitution at nucleotide position 2802, causing the glutamic acid (E) at amino acid position 934 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005016828 SCV005651776 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 2024-04-14 criteria provided, single submitter clinical testing

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