ClinVar Miner

Submissions for variant NM_201599.3(ZMYM3):c.1322G>A (p.Arg441Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721039 SCV005328057 likely pathogenic not provided 2023-02-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: Hiatt2022[paper], Brusco2022[paper], 36586412, 24721225)
Laboratory of Medical Genetics, University of Torino RCV002291086 SCV002583293 uncertain significance Global developmental delay; Abnormal facial shape; Hyporeflexia; Neonatal hypotonia 2022-10-09 no assertion criteria provided research

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