ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)

gnomAD frequency: 0.00006  dbSNP: rs1220930025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514727 SCV000610544 likely pathogenic not provided 2017-08-31 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001526393 SCV001736725 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000514727 SCV002546966 pathogenic not provided 2022-01-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease
Genome-Nilou Lab RCV001526393 SCV002554725 likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing

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