ClinVar Miner

Submissions for variant NM_015465.5(GEMIN5):c.3046C>T (p.Arg1016Cys)

gnomAD frequency: 0.00455  dbSNP: rs61749643
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000681623 SCV000809064 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000681623 SCV004157887 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing GEMIN5: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000681623 SCV005188708 uncertain significance not provided criteria provided, single submitter not provided
GeneDx RCV000681623 SCV005379955 likely pathogenic not provided 2024-04-12 criteria provided, single submitter clinical testing Published functional studies demonstrated reduced dimerization and ribosome association compared to wildtype (PMID: 35393353); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35295849, 35393353, 36980979, 16677673, 38316953)

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