ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003153120 SCV003841924 pathogenic Eichsfeld type congenital muscular dystrophy 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Revvity Omics, Revvity RCV003153120 SCV004238637 likely pathogenic Eichsfeld type congenital muscular dystrophy 2023-05-22 criteria provided, single submitter clinical testing

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