ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1534A>G (p.Thr512Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448731 SCV004176390 uncertain significance Paramyotonia congenita of Von Eulenburg 2023-02-14 criteria provided, single submitter clinical testing The missense variant c.1534A>G (p.Thr512Ala) in the SCN4A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0004%) in the gnomAD Exomes and novel (not in any individuals) in 1000 Genomes. The amino acid Threonine at position 512 is changed to a Alanine changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance.

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