ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.1031AAG[1] (p.Glu345del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005001776 SCV005626960 uncertain significance not provided 2024-07-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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