ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)

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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 RCV002283891 SCV002573062 pathogenic Chédiak-Higashi syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense) 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. The variant has been reported to be associated with LYST-related disorder (PMID: 30815890). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV002283891 SCV005644462 likely pathogenic Chédiak-Higashi syndrome 2024-05-02 criteria provided, single submitter clinical testing

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