ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) (rs545724550)

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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 RCV000713105 SCV000843676 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387181 SCV000405086 uncertain significance Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281184 SCV000405087 uncertain significance Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338105 SCV000405088 uncertain significance Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371720 SCV000405089 uncertain significance Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279601 SCV000405090 uncertain significance Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000702745 SCV000831613 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2018-03-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1351 of the SCN4A protein (p.Thr1351Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs545724550, ExAC 0.009%). This variant has not been reported in the literature in individuals with SCN4A-related disease. ClinVar contains an entry for this variant (Variation ID: 324520). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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