ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) (rs372019457)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518648 SCV000615072 likely benign not specified 2016-08-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316992 SCV000405211 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371513 SCV000405212 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281591 SCV000405213 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336729 SCV000405214 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377274 SCV000405215 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000654664 SCV000776561 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2018-01-31 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 855 of the SCN4A protein (p.Met855Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs372019457, ExAC 0.09%). This variant has not been reported in the literature in individuals with SCN4A-related disease. ClinVar contains an entry for this variant (Variation ID: 324534). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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