ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln) (rs780703403)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557400 SCV000658559 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2018-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1142 of the SCN4A protein (p.Arg1142Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs780703403, ExAC 0.01%). This variant has been observed to segregate with autosomal recessive congenital myopathy in a family (PMID: 28262468). ClinVar contains an entry for this variant (Variation ID: 477417). Experimental studies have shown that this missense change alters the electrophysiological function of the sodium channel encoded by SCN4A (PMID: 28262468). 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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