ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.1363A>T (p.Lys455Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314273 SCV004013468 likely pathogenic CEBALID syndrome criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is 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 Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Institute of Human Genetics, University of Goettingen RCV003314273 SCV004801960 likely pathogenic CEBALID syndrome 2023-06-02 criteria provided, single submitter clinical testing

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