ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn)

gnomAD frequency: 0.00006  dbSNP: rs199656266
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538078 SCV000658543 uncertain significance Hyperkalemic periodic paralysis 2024-11-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 932 of the SCN4A protein (p.Asp932Asn). This variant is present in population databases (rs199656266, gnomAD 0.03%). 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: 477408). 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) has been performed 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. 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 RCV001267294 SCV001445475 likely pathogenic Inborn genetic diseases 2018-06-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335257 SCV001528363 uncertain significance Congenital myasthenic syndrome 16 2018-08-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV005027661 SCV005651777 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 2024-04-27 criteria provided, single submitter clinical testing

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