ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.843C>G (p.Ile281Met)

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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 RCV003340879 SCV004047680 uncertain significance Congenital myopathy 4A, autosomal dominant criteria provided, single submitter clinical testing The missense variant in c.843C>G(p.Ile281Met) in SELENON gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ile281Met variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Ile281Met in SELENON is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ile at position 281 is changed to a Met changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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